Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature - Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; Billette de Villemeur, Thierry; et al. (Human mutation, 2020)
Keywords: Alleles; developmental and epileptic encephalopathy; Epilepsy; Epilepsy - diagnosis; Epilepsy - genetics; Genetic Association Studies - methods; Genetic Predisposition to Disease; Genetic Variation; Genotype; Humans; KCNB1; Life Sciences; Neurodevelopmental disorders; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - genetics; Phenotype; Phenotypes; potassium channel; Potassium channels (voltage-gated); Shab Potassium Channels - chemistry; Shab Potassium Channels - genetics; Shab Potassium Channels - metabolism; Structure-Activity Relationship; epilepsy; potassium channel; developmental and epileptic encephalopathy; KCNB1