Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature-Reference-Cited by-同舟云学术

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

Published:2019-10-04 Issue:1 Volume:41 Page:69-80
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bar Claire¹²³^ORCID,Barcia Giulia²³⁴,Jennesson Mélanie⁵,Le Guyader Gwenaël⁶⁷,Schneider Amy⁸,Mignot Cyril⁹¹⁰,Lesca Gaetan¹¹¹²,Breuillard Delphine¹,Montomoli Martino¹³,Keren Boris¹⁰,Doummar Diane¹⁴,Billette de Villemeur Thierry¹⁴,Afenjar Alexandra¹⁵,Marey Isabelle¹⁰,Gerard Marion¹⁶,Isnard Hervé¹⁷,Poisson Alice¹⁸,Dupont Sophie⁹¹⁹,Berquin Patrick²⁰,Meyer Pierre²¹²²,Genevieve David²³,De Saint Martin Anne²⁴,El Chehadeh Salima²⁵,Chelly Jamel²⁵,Guët Agnès²⁶,Scalais Emmanuel²⁷,Dorison Nathalie²⁸,Myers Candace T.²⁹,Mefford Heather C.³⁰,Howell Katherine B.³¹³²,Marini Carla¹³,Freeman Jeremy L.³¹³²,Nica Anca³³,Terrone Gaetano³⁴,Sekhara Tayeb³⁵,Lebre Anne‐Sophie³⁶,Odent Sylvie³⁷³⁸,Sadleir Lynette G.³⁹,Munnich Arnold³⁴,Guerrini Renzo¹³,Scheffer Ingrid E.⁸³¹⁴⁰,Kabashi Edor²³,Nabbout Rima¹²³^ORCID

Affiliation:

1. Department of Pediatric Neurology, Reference Centre for Rare EpilepsiesHôpital Necker‐Enfants MaladesParis France

2. Imagine institute, laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163Imagine InstituteParis France

3. Université Paris Descartes‐Sorbonne Paris CitéParis France

4. Department of genetics, Necker Enfants Malades hospitalAssistance Publique‐Hôpitaux de ParisParis France

5. Department of PediatricsAmerican Memorial HospitalReims France

6. Department of geneticsUniversity hospital PoitiersPoitiers Cedex France

7. EA3808‐NEUVACOD Unité Neurovasculaire et Troubles Cognitifs, Pôle Biologie SantéUniversité de PoitiersPoitiers France

8. Department of Medicine, Epilepsy Research Centre, Austin HealthThe University of MelbourneHeidelberg Victoria Australia

9. Institut du Cerveau et de la Moelle épinière, INSERM, U 1127, CNRS UMR 7225Sorbonne Universités UPMC Univ Paris 06 UMR S 1127 Paris France

10. Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, APHP, Hôpital Pitié‐SalpêtrièreGRC UPMC (Déficience Intellectuelle et Autisme)Paris France

11. Department of geneticsHospices Civils de LyonLyon France

12. Neurosciences centre of Lyon, INSERM U1028, UMR CNRS 5292Université Claude Bernard Lyon 1Bron Cedex France

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

14. Department of Pediatric Neurology, Hôpital Armand TrousseauAP‐HPParis France

15. 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°19Sorbonne UniversitéParis France

16. Department of geneticsCHU Côte de NacreCaen France

17. Neurology clinicLyon France

18. Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR‐Psy TeamCentre National de la Recherche Scientifique & Lyon 1 Claude Bernard UniversityVilleurbanne France

19. Epileptology and Rehabilitation department, GH Pitie‐Salpêtrière‐Charles FoixAP‐HPParis France

20. Department of pediatric neurology Amiens‐Picardie university hospitalUniversité de Picardie Jules VerneAmiens France

21. Department of pediatric neurologyMontpellier university hospitalMontpellier France

22. PhyMedExp, U1046 INSERMUMR9214 CNRSMontpellier France

23. Service de génétique clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de référence maladies rares anomalies du développementCHU MontpellierMontpellier France

24. Department of Pediatric NeurologyStrasbourg University HospitalStrasbourg France

25. Department of genetics, Hôpital de HautepierreHôpitaux Universitaires de StrasbourgStrasbourg France

26. Department of PediatricLouis‐Mourier HospitalColombes France

27. Department of Pediatric Neurology, Centre Hospitalier de LuxembourgLuxembourg CityLuxembourg City Luxembourg

28. Department of pediatric NeurosurgeryRothschild Foundation HospitalParis France

29. Department of PediatricsUniversity of WashingtonSeattle Washington

30. Department of Pediatrics, Division of Genetic MedicineUniversity of WashingtonSeattle Washington

31. Departments of Neurology and Paediatrics, Royal Children's HospitalUniversity of MelbourneMelbourne Victoria Australia

32. Murdoch Children's Research InstituteMelbourne Victoria Australia

33. Department of Neurology, Center for Clinical Research (CIC 1414)Rennes University HospitalRennes France

34. Department of Translational Medical Sciences, Section of Pediatrics‐Child Neurology UnitFederico II UniversityNaples Italy

35. Department of Pediatric NeurologyC.H.I.R.E.CBrussels Belgium

36. Department of genetics, Maison Blanche hospitalUniversity hospital, ReimsReims France

37. Reference Centre for Rare Developmental AbnormalitiesCLAD‐Ouest, CHU RennesRennes France

38. Institute of genetics and developmentCNRS UMR 6290, Rennes universityRennes France

39. Department of Paediatrics and Child HealthUniversity of OtagoWellington New Zealand

40. The Florey Institute of Neurosciences and Mental HealthHeidelberg Victoria Australia

Funder

H2020 European Research Council

Health Research Council of New Zealand

Agence Nationale de la Recherche

Seventh Framework Programme

Fondation Bettencourt Schueller

European Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23915

Reference59 articles.

1. Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect

2. Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

3. Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

4. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

5. The Subfamily-Specific Interaction between Kv2.1 and Kv6.4 Subunits Is Determined by Interactions between the N- and C-termini

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