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

C Bar; M Kuchenbuch; G Barcia; A Schneider; M Jennesson; G Le Guyader; G Lesca; C Mignot; M Montomoli; E Parrini; H Isnard; A Rolland; B Keren; A Afenjar; N Dorison; LG Sadleir; D Breuillard; R Levy; M Rio; S Dupont; S Negrin; A Danieli; E Scalais; A De Saint Martin; S El Chehadeh; J Chelly; A Poisson; AS Lebre; A Nica; S Odent; T Sekhara; V Brankovic; A Goldenberg; P Vrielynck; D Lederer; H Maurey; G Terrone; C Besmond; L Hubert; P Berquin; T Billette de Villemeur; B Isidor; JL Freeman; HC Mefford; CT Myers; KB Howell; A Rodríguez-Sacristán Cascajo; P Meyer; D Genevieve; A Guët; D Doummar; J Durigneux; MF van Dooren; MCY de Wit; M Gerard; I Marey; A Munnich; R Guerrini; IE Scheffer; E Kabashi; R Nabbout

Journal article

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

C Bar, M Kuchenbuch, G Barcia, A Schneider, M Jennesson, G Le Guyader, G Lesca, C Mignot, M Montomoli, E Parrini, H Isnard, A Rolland, B Keren, A Afenjar, N Dorison, LG Sadleir, D Breuillard, R Levy, M Rio, S Dupont Show all

Epilepsia | WILEY | Published : 2020

DOI: 10.1111/epi.16679

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Abstract

Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association “KCNB1 France.” Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE). In addition, we reviewed published cases and provided the long-term outcome in patients older than 12 years from our series and from literature. Results: Our series included 36 patients (21 males, median age = 10 years,..

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University of Melbourne Researchers

Amy Schneider Author

Ingrid Scheffer Author

Grants

Awarded by Fondation Bettencourt Schueller

Funding Acknowledgements

The authors thank the association KCNB1 France as well as all patients and their families from around the world for their participation in this study. This study was funded by grants from the National Research Agency under the "Investissements d'avenir" program (ANR-10IAHU-01), the Bettencourt Schueller Foundation (C.Ba. and R.N.), the French League Against Epilepsy (C.Ba.), the ERC Consolidator Grant (E. K.), Curekids New Zealand and the Health Research Council of New Zealand (L.G.S. and I.E.S.), the National Health and Medical Research Council of Australia and Medical Research Future Fund of Australia (I.E.S.), and the European Commission Seventh Framework Program under the project DESIRE (grant agreement 602531, R.G.).