扩大CHD2-相关脑病变的突变格局和临床表型

Angela Clara-Hwang¹, Stefani Stefani¹, Tracy Lau¹+34

• ¹From 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.