Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Markus Wolff, Katrine Marie Johannesen, +82 authors Rikke Steensbjerre MøllerBrain : a journal of neurology2017Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71… (More)