Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Author:

Bar Claire12ORCID,Kuchenbuch Mathieu12ORCID,Barcia Giulia23,Schneider Amy4,Jennesson Mélanie5,Le Guyader Gwenaël67,Lesca Gaetan89ORCID,Mignot Cyril1011,Montomoli Martino12,Parrini Elena12,Isnard Hervé13,Rolland Anne14,Keren Boris11,Afenjar Alexandra15,Dorison Nathalie1617,Sadleir Lynette G.18ORCID,Breuillard Delphine12,Levy Raphael19,Rio Marlène320,Dupont Sophie1021ORCID,Negrin Susanna22,Danieli Alberto22,Scalais Emmanuel23,De Saint Martin Anne24,El Chehadeh Salima25,Chelly Jamel25,Poisson Alice26,Lebre Anne‐Sophie27,Nica Anca2829,Odent Sylvie3031,Sekhara Tayeb32,Brankovic Vesna33,Goldenberg Alice34,Vrielynck Pascal35,Lederer Damien36,Maurey Hélène37,Terrone Gaetano38,Besmond Claude39,Hubert Laurence39,Berquin Patrick40,Billette de Villemeur Thierry17,Isidor Bertrand41,Freeman Jeremy L.4243,Mefford Heather C.44,Myers Candace T.44,Howell Katherine B.4243,Rodríguez‐Sacristán Cascajo Andrés4546,Meyer Pierre4748,Genevieve David49,Guët Agnès50,Doummar Diane17,Durigneux Julien42,van Dooren Marieke F.51,de Wit Marie Claire Y.52,Gerard Marion53,Marey Isabelle11,Munnich Arnold23,Guerrini Renzo12,Scheffer Ingrid E.4424354ORCID,Kabashi Edor2,Nabbout Rima12

Affiliation:

1. Department of Pediatric Neurology Reference Center for Rare Epilepsies Assistance Publique‐Hôpitaux de Paris (AP‐HP), Necker‐Enfants Malades Hospital Paris France

2. Imagine Institute, Mixed Unit of Research 1163 University of ParisSorbonne University Paris France

3. Department of Clinical Genetics AP‐HP, Necker‐Enfants Malades Hospital Paris France

4. Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Heidelberg Victoria Australia

5. Department of Pediatrics American Memorial Hospital Reims France

6. Department of Genetics Poitiers University Hospital CenterPoitiers Cedex France

7. EA3808–NEUVACOD Neurovascular and Cognitive Disorders Unit University of Poitiers Poitiers France

8. Department of Genetics Lyon Civil Hospices Lyon France

9. NeuroMyoGène Institute National Center for Scientific Research Mixed Unit of Research 5310, National Institute of Health and Medical Research U1217University of LyonClaude Bernard Lyon 1 University Villeurbanne France

10. National Institute of Health and Medical Research, U1127 National Center for Scientific Research Mixed Unit of Research 7225 Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127 Brain and Spine Institute Sorbonne University Paris France

11. Department of Genetics Rare Causes of Intellectual Disability Reference Center AP‐HP, Pitié‐Salpêtrière HospitalSorbonne University Paris France

12. Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories Neuroscience Department A. Meyer Children's HospitalUniversity of Florence Florence Italy

13. Pediatric Neurologist Medical Office Lyon France

14. Department of Pediatrics Nantes University Hospital Center Nantes France

15. Department of Genetics and Medical Embryology Reference Center for Malformations and Congenital Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities Sorbonne UniversityAP‐HP, Trousseau Hospital Paris France

16. Pediatric Neurosurgery Department Rothschild Foundation Hospital Paris France

17. Department of Pediatric Neurology AP‐HP, Armand Trousseau HospitalSorbonne University Paris France

18. Department of Pediatrics and Child Health University of Otago Wellington New Zealand

19. Department of Pediatric Radiology Necker‐Enfants Malades Hospital Paris France

20. Laboratory of Developmental Brain Disorders National Institute of Health and Medical Research Mixed Unit of Research 1163 Imagine InstituteSorbonne University Paris France

21. Epileptology Unit and Rehabilitation Unit AP‐HP, Pitie‐Salpêtrière‐Charles Foix Hospital Paris France

22. Epilepsy and Clinical Neurophysiology Unit Scientific InstituteIRCCS E. Medea Treviso Italy

23. Pediatric Neurology Unit Luxembourg Hospital Center Luxembourg City Luxembourg

24. Department of Pediatric Neurology Strasbourg University HospitalHautepierre Hospital Strasbourg France

25. Department of Medical Genetics Strasbourg University HospitalsHautepierre Hospital Strasbourg France

26. GénoPsy Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders le Vinatier Hospital Center and EDR‐Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University) Villeurbanne France

27. Reims University Hospital CenterMaison Blanche HospitalBiology Department Reims France

28. Neurology Department Center for Clinical Research (CIC 1414) Rennes University Hospital Rennes France

29. Laboratory of Signal ProcessingNational Institute of Health and Medical Research Mixed Unit of Research 1099 Rennes France

30. Reference Center for Rare Developmental Abnormalities CLAD‐Ouest Rennes University Hospital Center Rennes France

31. National Center for Scientific Research Mixed Unit of Research 6290, Institute of Genetics and Development of Rennes (IGDR)University of Rennes Rennes France

32. Department of Pediatric Neurology C.H.I.R.E.C Brussels Belgium

33. Clinic for Child Neurology and Psychiatry Belgrade Serbia

34. Reference Center for Developmental Anomalies and Malformation Syndromes Rouen University Hospital Center Rouen France

35. Reference Center for Refractory Epilepsy, Catholic University of Louvain William Lennox Neurological Hospital Ottignies Belgium

36. Human Genetic Center IPG Gosselies Belgium

37. Department of Pediatric Neurology AP‐HP, Bicêtre University Hospital Kremlin Bicêtre France

38. Department of Translational Medical Sciences Section of Pediatrics, Child Neurology Unit Federico II University Naples Italy

39. Translational Genetics National Institute of Health and Medical Research Mixed Unit of Research 1163Imagine InstituteUniversity of Paris Paris France

40. Department of Pediatric Neurology Amiens‐Picardie University Hospital CenterUniversity of Picardy Jules Verne Amiens France

41. Department of Clinical Genetics Nantes University Hospital Center Nantes France

42. Departments of Neurology and Paediatrics Royal Children's Hospital University of Melbourne Melbourne Victoria Australia

43. Murdoch Children’s Research Institute Melbourne Victoria Australia

44. Department of Pediatrics Division of Genetic Medicine University of Washington Seattle Washington United States

45. Pediatric Neurology Unit Department of Pediatric Virgen Macarena Hospital Seville Spain

46. Department of Pediatrics School of Medicine University of Seville Seville Spain

47. Department of Pediatric Neurology Montpellier University Hospital Center Montpellier France

48. PhyMedExp National Institute of Health and Medical Research, U1046National Center for Scientific Research Mixed Unit of Research 9214University of Montpellier Montpellier France

49. Department of Medical Genetics, Rare Disease, and Personalized Medicine IRMBUniversity of MontpellierNational Institute of Health and Medical ResearchMontpellier University Hospital Center Montpellier France

50. Department of Pediatrics Louis‐Mourier Hospital Colombes France

51. Department of Clinical Genetics Erasmus University Medical Center Rotterdam the Netherlands

52. Department of Pediatric Neurology and ENCORE Expertise Center Erasmus University Medical Center Sophia Children’s Hospital Rotterdam the Netherlands

53. Clinical Genetics Côte de Nacre University Hospital Center Caen France

54. Florey Institute of Neurosciences and Mental Health Heidelberg Victoria Australia

Funder

FP7 Ideas: European Research Council

National Health and Medical Research Council

Health Research Council of New Zealand

Agence Nationale de la Recherche

Fondation Bettencourt Schueller

Seventh Framework Programme

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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