Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2024
Historique:
received: 07 12 2023
accepted: 02 05 2024
medline: 22 7 2024
pubmed: 22 7 2024
entrez: 22 7 2024
Statut: epublish

Résumé

To present a case series of novel CHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in chromatin remodeling. Pathogenic variants in CHD2 are linked to early-onset conditions such as developmental and epileptic encephalopathy, drug-resistant epilepsies, and neurodevelopmental disorders. Approximately 225 diagnosed patients from 28 countries exhibit various allelic variants in CHD2, including small intragenic deletions/insertions and missense, nonsense, and splice site variants. We present the molecular and clinical characteristics of 17 unreported individuals from 17 families with novel pathogenic or likely pathogenic variants in Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.

Sections du résumé

Objectives UNASSIGNED
To present a case series of novel
Background UNASSIGNED
CHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in chromatin remodeling. Pathogenic variants in CHD2 are linked to early-onset conditions such as developmental and epileptic encephalopathy, drug-resistant epilepsies, and neurodevelopmental disorders. Approximately 225 diagnosed patients from 28 countries exhibit various allelic variants in CHD2, including small intragenic deletions/insertions and missense, nonsense, and splice site variants.
Results UNASSIGNED
We present the molecular and clinical characteristics of 17 unreported individuals from 17 families with novel pathogenic or likely pathogenic variants in
Discussion UNASSIGNED
Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.

Identifiants

DOI: 10.1212/NXG.0000000000200168 PMID: 39035822 PMC: PMC11259532
pubmed: 39035822
doi: 10.1212/NXG.0000000000200168
pii: NXG-2023-000342
pmc: PMC11259532
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200168

Informations de copyright

Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

P. Striano received support from Italian MoH (Ricerca Corrente 2023) and Fondazione San Paolo. Research supported by PNRR-MUR-M4C2 PE0000006 Research Program MNESYS—A multiscale integrated approach to the study of the nervous system in health and disease. IRCCS G. Gaslini is a member of ERN-Epicare. Go to Neurology.org/NG for full disclosures.

Auteurs

Angela 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.
ORCID: 0000-0003-2499-8154

Stefani 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.
ORCID: 0000-0002-4106-5674

Tracy 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.
ORCID: 0000-0003-0514-1729

Marcello 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.
ORCID: 0000-0003-2194-7239

Busra 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.
ORCID: 0000-0001-9152-9783

Pia 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.
ORCID: 0000-0002-4150-1624

Francesca 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.
ORCID: 0000-0002-7807-1322

Sophia 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.
ORCID: 0000-0003-4862-4026

Rauan 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.
ORCID: 0000-0003-1640-4010

Reza 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.
ORCID: 0000-0001-6763-1542

Federico 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.
ORCID: 0000-0001-9744-5222

Varunvenkat M 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.
ORCID: 0000-0003-3892-4439

Vykuntaraju 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.
ORCID: 0000-0001-7244-0492

Ulviyya 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.
ORCID: 0000-0003-3834-336X

Alexandra 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.
ORCID: 0009-0009-1795-471X

Anne-Lise 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.
ORCID: 0000-0002-5914-2498

Ayten 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.
ORCID: 0000-0002-4968-9326

Colette 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.
ORCID: 0009-0003-1852-7708

Dorothee M 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.
ORCID: 0000-0001-9432-4409

Julitta 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.
ORCID: 0000-0002-2593-8463

Sara 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.
ORCID: 0000-0003-0115-2586

Antje 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.
ORCID: 0009-0005-4759-2335

Alexander 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.
ORCID: 0000-0003-1604-4596

Agusti 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.
ORCID: 0000-0002-4141-5515

Nicolas 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.
ORCID: 0000-0003-0538-0981

Gaetan 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.
ORCID: 0000-0001-7691-9492

Hüseyin 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.
ORCID: 0000-0001-9904-6479

Himanshu 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.
ORCID: 0000-0001-6448-6618

Janis 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.
ORCID: 0009-0000-8162-3063

Tanja 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.
ORCID: 0000-0002-2544-9993

Katharina 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.
ORCID: 0000-0002-4425-3072

Anita 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.
ORCID: 0000-0003-2930-3163

Mariasavina 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.
ORCID: 0000-0003-4730-5322

Henry 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.
ORCID: 0000-0002-2866-7777

Paola 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.
ORCID: 0000-0001-8456-2331

Pasquale 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.
ORCID: 0000-0002-6065-1476

Stephanie 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.
ORCID: 0000-0003-4900-9877

Classifications MeSH