Zobrazeno 1 - 10
of 393
pro vyhledávání: '"Srinivasan VM"'
Autor:
Shekhtman O; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Sioutas GS; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Dagli MM; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Matache IM; Department of Physiology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania., Pukenas BA; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jankowitz BT; Hackensack Meridian Neuroscience Institute at JFK University Medical Center, Edison, New Jersey, USA., Burkhardt JK; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Srinivasan VM; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences [Interv Neuroradiol] 2024 Aug 08, pp. 15910199241272515. Date of Electronic Publication: 2024 Aug 08.
Autor:
Hendrix P; Department of Neurosurgery, Geisinger, Danville, PA, USA. Hendrix.philipp@gmail.com., Gross BA; Department of Neurosurgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Allahdadian S; Department of Neurology, Penn State Neuroscience Institute, Hershey, PA, USA., Sioutas GS; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Koul P; Department of Neurosurgery, Geisinger, Danville, PA, USA., Tarbay AC; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Lang MJ; Department of Neurosurgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Srinivasan VM; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Al-Bayati AR; Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Li J; Department of Molecular and Functional Genomics, Weis Center for Research, Geisinger, Danville, PA, USA., Noto A; Department of Neurology, Geisinger, Danville, PA, USA., Nogueira RG; Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Burkhardt JK; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Zand R; Department of Neurology, Penn State Neuroscience Institute, Hershey, PA, USA., Schirmer CM; Department of Neurosurgery, Geisinger, Danville, PA, USA.
Publikováno v:
Journal of neurology [J Neurol] 2024 Aug; Vol. 271 (8), pp. 5637-5641. Date of Electronic Publication: 2024 Jul 03.
Autor:
Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. drknvraju08@gmail.com., Babu S; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India., Kinhal U; Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India., Srinivasan VM; Department of Clinical Genetics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Publikováno v:
Indian journal of pediatrics [Indian J Pediatr] 2024 Aug; Vol. 91 (8), pp. 872. Date of Electronic Publication: 2024 Feb 23.
Autor:
McCloskey K; Drexel University College of Medicine, Philadelphia, Pennsylvania, USA., Gajjar AA; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA. Electronic address: avi.gajjar@pennmedicine.upenn.edu., Salem MM; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Susca L; Drexel University College of Medicine, Philadelphia, Pennsylvania, USA., Sioutas GS; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Srinivasan VM; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Jankowitz BT; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Burkhardt JK; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA.
Publikováno v:
World neurosurgery [World Neurosurg] 2024 Aug; Vol. 188, pp. e414-e418. Date of Electronic Publication: 2024 May 27.
Autor:
Johnson JN; 1Department of Neurosurgery, University of California, Los Angeles, California., Teton ZE; 1Department of Neurosurgery, University of California, Los Angeles, California., Lee JE; 2Department of Neurosurgery, University of Southern California, Los Angeles, California., Bergsneider M; 1Department of Neurosurgery, University of California, Los Angeles, California., Srinivasan VM; 3Department of Neurosurgery, University of Pennsylvania, Philadelphia, Pennsylvania; and., Colby GP; 1Department of Neurosurgery, University of California, Los Angeles, California., Wang AC; 1Department of Neurosurgery, University of California, Los Angeles, California., Kan P; 4Department of Neurosurgery, University of Texas Medical Branch, Galveston, Texas.
Publikováno v:
Journal of neurosurgery [J Neurosurg] 2024 Jul 19, pp. 1-10. Date of Electronic Publication: 2024 Jul 19.
Autor:
Alstrup M; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: morten.christian@rn.dk., Cesca F; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy. Electronic address: fcesca@units.it., Krawczun-Rygmaczewska A; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy., López-Menéndez C; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain., Pose-Utrilla J; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain., Castberg FC; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark., Bjerager MO; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark., Finnila C; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Manwaring L; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Keren B; Département de génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Afenjar A; APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, UF de génétique clinique, Hôpital Trousseau, Paris, France., Galatolo D; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Scalise R; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH USA; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA., Vezain M; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France., Martinovic J; Department of Fetal Pathology, AP-HP Antoine Beclere Hospital, University Paris Saclay, Clamart, France., Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India., Thiffault I; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Pastinen T; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA., Baranano K; Johns Hopkins University, The Johns Hopkins Hospital, Baltimore, MD, USA., Lee A; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO, USA., Granadillo J; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO, USA., Glassford MR; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH USA., Keegan CE; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA., Matthews N; WVU Medicine Children's Hospital, Division of Genetics, Morgantown, WV, USA., Saugier-Veber P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France; CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Iglesias T; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain. Electronic address: tiglesias@iib.uam.es., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul 18, pp. 101219. Date of Electronic Publication: 2024 Jul 18.
Autor:
Clara-Hwang A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Stefani S; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Lau T; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Scala M; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Aynekin B; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Bernardo P; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Madia F; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Bakhtadze S; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Kaiyrzhanov R; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Maroofian R; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Zara F; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Srinivasan VM; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Gowda V; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Guliyeva U; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Montavont A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Poulat AL; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Güleç A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Berger C; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Ville DM; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., de Bellescize J; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Cabet S; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Wonneberger A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Schulz A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Rodriguez-Palmero A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Chatron N; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Lesca G; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Per H; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Goel H; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Brown J; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Frey T; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Steindl K; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Rauch A; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Severino M; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Houlden H; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Nicolaides P; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Striano P; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus., Efthymiou S; From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2024 Jul 11; Vol. 10 (4), pp. e200168. Date of Electronic Publication: 2024 Jul 11 (Print Publication: 2024).
Autor:
Salem MM; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA msalem_123@yahoo.com jan.burkhardt@pennmedicine.upenn.edu., Sioutas GS; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gajjar A; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Khalife J; Department Neurosurgery, Cooper University Health Care, Camden, New Jersey, USA., Kuybu O; Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Carroll KT; Department of Neurosurgery, University of Washington School of Medicine, Seattle, Washington, USA., Hoang AN; Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, USA., Baig AA; Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA., Salih M; Division of Neurosurgery, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Baker C; Department of Neurosurgery, University of Utah Health, Salt Lake City, Utah, USA., Cortez GM; Department of Neurosurgery, Baptist Medical Center, Jacksonville, Florida, USA., Abecassis Z; Department of Neurosurgery, University of Washington School of Medicine, Seattle, Washington, USA., Ruiz Rodriguez JF; Department of Neurosurgery, University of Washington School of Medicine, Seattle, Washington, USA., Davies JM; Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA., Cawley CM; Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USA., Riina H; Department of Neurosurgery, NYU Langone Medical Center, New York, New York, USA., Spiotta AM; Department of Neurosurgery, Medical University of South Carolina, Charleston, South Carolina, USA., Khalessi A; Department of Neurosurgery, University of California San Diego, La Jolla, California, USA., Howard BM; Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USA., Hanel RA; Department of Neurosurgery, Baptist Medical Center, Jacksonville, Florida, USA., Tanweer O; Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, USA., Tonetti D; Department Neurosurgery, Cooper University Health Care, Camden, New Jersey, USA., Siddiqui AH; Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA., Lang M; Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Levy EI; Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, USA., Ogilvy CS; Division of Neurosurgery, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Srinivasan VM; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kan P; Department of Neurosurgery, University of Texas Medical Branch at Galveston, Galveston, Texas, USA., Gross BA; Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Jankowitz B; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Levitt MR; Department of Neurosurgery, University of Washington School of Medicine, Seattle, Washington, USA., Thomas AJ; Department Neurosurgery, Cooper University Health Care, Camden, New Jersey, USA., Grandhi R; Department of Neurosurgery, University of Utah Health, Salt Lake City, Utah, USA., Burkhardt JK; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA msalem_123@yahoo.com jan.burkhardt@pennmedicine.upenn.edu.
Publikováno v:
Journal of neurointerventional surgery [J Neurointerv Surg] 2024 Jul 11. Date of Electronic Publication: 2024 Jul 11.
Autor:
Patel SA; Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: shray.patel@jefferson.edu., Vivanco-Suarez J; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Palepu C; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Chisvo NS; Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Patel S; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Gajjar AA; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Woodiwiss T; Department of Neurology, Neurosurgery & Radiology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Burkhardt JK; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA., Srinivasan VM; Department of Neurosurgery, Hospital of the University of Pennsylvania, Penn Medicine, Philadelphia, Pennsylvania, USA.
Publikováno v:
World neurosurgery [World Neurosurg] 2024 Jul 05. Date of Electronic Publication: 2024 Jul 05.
Autor:
Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. drknvraju08@gmail.com., Markose AP; Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India., Reddy VS; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India., Srinivasan VM; Department of Clinical Genetics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Publikováno v:
Indian journal of pediatrics [Indian J Pediatr] 2024 Jul; Vol. 91 (7), pp. 757. Date of Electronic Publication: 2024 Jan 20.