Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Autor: Stamberger H; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia. hannah.stamberger@uantwerpen.be., Crosiers D; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Balagura G; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Bonardi CM; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Basu A; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Cantalupo G; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Chiesa V; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Christensen J; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Dalla Bernardina B; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Ellis CA; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Furia F; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Gardiner F; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Giron C; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Guerrini R; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Klein KM; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Korff C; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Krijtova H; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Leffler M; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Lerche H; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Lesca G; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Lewis-Smith D; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Marini C; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Marjanovic D; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Mazzola L; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., McKeown Ruggiero S; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Mochel F; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Ramond F; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Reif PS; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Richard-Mornas A; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Rosenow F; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Schropp C; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Thomas RH; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Vignoli A; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Weber Y; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Palmer E; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Helbig I; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Scheffer IE; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Striano P; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Møller RS; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Gardella E; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Weckhuysen S; From the Applied and Translational Neurogenomics Group (H.S., S.W.), VIB Center for Molecular Neurology, University of Antwerp; Department of Neurology (H.S., D.C., S.W.), Antwerp University Hospital; Faculty of Medicine and Health Sciences (D.C., S.W.), Translational Neurosciences, Institute Born-Bunge (D.C.), and µNEURO Research Centre of Excellence (D.C., S.W.), University of Antwerp, Belgium; IRCCS Istituto Giannina Gaslini (G.B., P.S.), Genova; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (G.B., P.S.), University of Genova, Italy; Department of Epilepsy Genetics (C.M.B., F.F., R.S.M., E.G.), Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Woman's and Child's Health (C.M.B.), Padova University Hospital, Italy; Population Health Sciences Institute (A.B.), Newcastle University; Department of Paediatric Neurology (A.B.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neuropsychiatry Section (G.C.), Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona; UOC Neuropsichiatria Infantile (G.C.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona; Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., B.D.B.), Verona; Epilepsy Center (V.C.), ASST Santi Paolo Carlo, Milan, Italy; Department of Clinical Medicine (J.C.), Aarhus University; Department of Neurology (J.C.), Aarhus University Hospital, Denmark; Department of Neurology (C.A.E.), University of Pennsylvania Perelman School of Medicine, Philadelphia; Institute for Regional Health Services Research (F.F., R.S.M., E.G.), University of Southern Denmark, Odense; University of Melbourne, Austin Health (F.G., I.E.S.), Victoria, Australia; AP-HP (C.G.), Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; Child Neurology Unit and Laboratories (R.G.), Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Italy; Departments of Clinical Neurosciences (K.M.K.), Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Epilepsy Center Frankfurt Rhine-Main (K.M.K., P.S.R., F. Rosenow), Department of Neurology, Johann Wolfgang Goethe University; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe University Frankfurt, Frankfurt am Main, Germany; Pediatric Neurology Unit (C.K.), University Hospitals, Geneva, Switzerland; Department of Neurology (H.K.), Second Faculty of Medicine, Charles University and Motol University Hospital Prague, Czech Republic; The GOLD Service (M.L.), Waratah, New South Wales, Australia; Department of Neurology and Epileptology & Hertie Institute for Clinical Brain Research (H.L., Y.W.), University of Tubingen, Germany; Department of Medical Genetics (G.L.), Lyon University Hospital, Université de Lyon, INMG, France; Translational and Clinical Research Institute (D.L.-S., R.H.T.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T.), Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Child Neurology and Psychiatric Unit (C.M.), G. Salesi Pediatric Hospital, United Hospitals of Ancona, Italy; Department of Adults with Handicap (D.M.), Danish Epilepsy Centre, Dianalund, Denmark; Department of Neurology (L.M.), University Hospital of St-Etienne; Team 'Central Integration of Pain' (L.M.), Lyon Neuroscience Research Center, INSERM U 1028, CNRS UMR 5292, France; The Epilepsy NeuroGenetics Initiative (ENGIN) (S.M.R.), Children's Hospital of Philadelphia, PA; AP-HP (F.M.), Pitié-Salpêtrière University Hospital, Department of Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies; INSERM U 1127 (F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM; Service de Génétique (F. Ramond), Centre Hospitalier Universitaire de Saint-Etienne, France; Department of Neurology (P.S.R.), Ortenau Klinikum Offenburg Kehl, Germany; Unit of Neurophysiology and Epileptology (A.R.-M.), Hospices Civils of Lyon, France; Kinderklinik Dritter Orden (C.S.), Passau, Germany; Child Neuropsychiatry Unit (A.V.), Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, Italy; Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany; School of Women and Children's Health (E.P.), Faculty of Medicine, UNSW; Sydney Children's Hospital Network (E.P.), Randwick, Australia; Division of Neurology (I.H.), Children's Hospital of Philadelphia, PA; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia.
Jazyk: angličtina
Zdroj: Neurology [Neurology] 2022 Jul 19; Vol. 99 (3), pp. e221-e233. Date of Electronic Publication: 2022 Jun 03.
DOI: 10.1212/WNL.0000000000200715
Abstrakt: Background and Objectives: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence.
Methods: In this observational study, patients with a minimum age of 18 years carrying a (likely) pathogenic STXBP1 variant were recruited through medical genetics departments and epilepsy centers. Treating clinicians completed clinical questionnaires and performed semistructured video examinations while performing tasks from the (modified) Unified Parkinson Disease Rating Scale when possible.
Results: Thirty adult patients were included for summary statistics, with video recordings available for 19 patients. The median age at last follow-up was 24 years (range 18-58 years). All patients had epilepsy, with a median onset age of 3.5 months. At last follow-up, 80% of adults had treatment-resistant seizures despite long periods of seizure freedom in 37%. Tonic-clonic, focal, and tonic seizures were most frequent in adults. Epileptic spasms, an unusual feature beyond infancy, were present in 3 adults. All individuals had developmental impairment. Periods of regression were present in 59% and did not always correlate with flare-ups in seizure activity. Eighty-seven percent had severe or profound intellectual disability, 42% had autistic features, and 65% had significant behavioral problems. Video examinations showed gait disorders in all 12 patients able to walk, including postural abnormalities with external rotation of the feet, broad-based gait, and asymmetric posture/dystonia. Tremor, present in 56%, was predominantly of the intention/action type. Stereotypies were seen in 63%. Functional outcome concerning mobility was variable ranging from independent walking (50%) to wheelchair dependence (39%). Seventy-one percent of adults were nonverbal, and all were dependent on caregivers for most activities of daily living.
Discussion: STXBP1-DEE warrants continuous monitoring for seizures in adult life. Periods of regression are more frequent than previously established and can occur into adulthood. Movement disorders are often present and involve multiple systems. Although functional mobility is variable in adulthood, STXBP1-DEE frequently leads to severe cognitive impairments and a high level of functional dependence. Understanding the natural history of STXBP1-DEE is important for prognostication and will inform future therapeutic trials.
(Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
Databáze: MEDLINE