Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Autor: Carapancea E; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Cornet MC; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Milh M; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., De Cosmo L; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Huang EJ; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Granata T; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Striano P; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Ceulemans B; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Stein A; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Morris-Rosendahl D; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Conti G; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Mitra N; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Raymond FL; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Rowitch DH; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Solazzi R; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Vercellino F; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., De Liso P; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., D'Onofrio G; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Boniver C; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Danhaive O; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Carkeek K; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Salpietro V; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Weckhuysen S; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Fedrigo M; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Angelini A; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Castellotti B; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Lederer D; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Benoit V; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Raviglione F; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Guerrini R; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Dilena R; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Cilio MR; From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital 'La Timone' Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium. roberta.cilio@uclouvain.be.
Jazyk: angličtina
Zdroj: Neurology [Neurology] 2023 Mar 21; Vol. 100 (12), pp. e1234-e1247. Date of Electronic Publication: 2023 Jan 04.
DOI: 10.1212/WNL.0000000000206755
Abstrakt: Background and Objectives: BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis.
Methods: Through a multinational collaborative, we studied a cohort of neonates with encephalopathy associated with biallelic pathogenic variants in BRAT1 for whom detailed clinical, neurophysiologic, and neuroimaging information was available from the onset of symptoms. Neuropathologic changes were also analyzed.
Results: We included 19 neonates. Most neonates were born at term (16/19) from nonconsanguineous parents. 15/19 (79%) were admitted soon after birth to a neonatal intensive care unit, exhibiting multifocal myoclonus, both spontaneous and exacerbated by stimulation. 7/19 (37%) had arthrogryposis at birth, and all except 1 progressively developed hypertonia in the first week of life. Multifocal myoclonus, which was present in all but 1 infant, was the most prominent manifestation and did not show any EEG correlate in 16/19 (84%). Video-EEG at onset was unremarkable in 14/19 (74%) infants, and 6 (33%) had initially been misdiagnosed with hyperekplexia. Multifocal seizures were observed at a median age of 14 days (range: 1-29). During the first months of life, all infants developed progressive encephalopathy, acquired microcephaly, prolonged bouts of apnea, and bradycardia, leading to cardiac arrest and death at a median age of 3.5 months (range: 20 days to 30 months). Only 7 infants (37%) received a definite diagnosis before death, at a median age of 34 days (range: 25-126), and almost two-thirds (12/19, 63%) were diagnosed 8 days to 12 years postmortem (median: 6.5 years). Neuropathology examination, performed in 3 patients, revealed severely delayed myelination and diffuse astrogliosis, sparing the upper cortical layers.
Discussion: BRAT1 encephalopathy is a neonatal-onset, rapidly progressive neurologic disorder. Neonates are often misdiagnosed as having hyperekplexia, and many die undiagnosed. The key phenotypic features are multifocal myoclonus, an organized EEG, progressive, persistent, and diffuse hypertonia, and an evolution into refractory multifocal seizures, prolonged bouts of apnea, bradycardia, and early death. Early recognition of BRAT1 encephalopathy allows for prompt workup, appropriate management, and genetic counseling.
(© 2023 American Academy of Neurology.)
Databáze: MEDLINE