Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Address: Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Department of genetics, Necker Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Department of Pediatrics, American Memorial Hospital, Reims, France.; Department of genetics, University hospital Poitiers, Poitiers Cedex, France.; EA3808-NEUVACOD Unité Neurovasculaire et Troubles Cognitifs, Pôle Biologie Santé, Université de Poitiers, Poitiers, France.; Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.; Department of genetics, Hospices Civils de Lyon, Lyon, France.; Neurosciences centre of Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Bron Cedex, France.; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, Paris, France.; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A Meyer Children's Hospital, University of Florence, Florence, Italy.; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié-Salpêtrière, GRC UPMC (Déficience Intellectuelle et Autisme), Paris, France.; Department of Pediatric Neurology, Hôpital Armand Trousseau, AP-HP, Paris, France.; Département de Génétique et Embryologie Médicale, Pathologies Congénitales du Cervelet-LeucoDystrophies, Centre de Référence déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, GRC n°19, Sorbonne Université, Paris, France.; Department of genetics, CHU Côte de Nacre, Caen, France.; Neurology clinic, Lyon, France.; Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team, Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University, Villeurbanne, France.; Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris, France.; Epileptology and Rehabilitation department, GH Pitie-Salpêtrière-Charles Foix, AP-HP, Paris, France.; Department of pediatric neurology Amiens-Picardie university hospital, Université de Picardie Jules Verne, Amiens, France.; Department of pediatric neurology, Montpellier university hospital, Montpellier, France.; PhyMedExp, U1046 INSERM, UMR9214 CNRS, Montpellier, France.; Service de génétique clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de référence maladies rares anomalies du développement, CHU Montpellier, Montpellier, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Strasbourg, France.; Department of genetics, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Department of Pediatric, Louis-Mourier Hospital, Colombes, France.; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg City, Luxembourg.; Department of pediatric Neurosurgery, Rothschild Foundation Hospital, Paris, France.; Department of Pediatrics, University of Washington, Seattle, Washington.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Neurology, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.; Department of Translational Medical Sciences, Section of Pediatrics-Child Neurology Unit, Federico II University, Naples, Italy.; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium.; Department of genetics, Maison Blanche hospital, University hospital, Reims, Reims, France.; Reference Centre for Rare Developmental Abnormalities, CLAD-Ouest, CHU Rennes, Rennes, France.; Institute of genetics and development, CNRS UMR 6290, Rennes university, Rennes, France.; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.; Department of genetics, Necker Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; The Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.; Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.