Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Melanie Jennesson, Gwenael Le Guyader, Gaetan Lesca, Cyril Mignot, Martino Montomoli, Elena Parrini, Herve Isnard, Anne Rolland, Boris Keren, Alexandra Afenjar, Nathalie Dorison, Lynette G Sadleir, Delphine Breuillard, Raphael Levy, Marlene Rio, Sophie Dupont Show all
Epilepsia | WILEY | Published : 2020
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,..View full abstract
Awarded by National Research Agency under the "Investissements d'avenir" program
Awarded by European Commission Seventh Framework Program under the project DESIRE
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.).