The phenotypic spectrum of SCN2A-related epilepsy

Abstract

Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual disability with and without seizures. To date, more than 300 patients with SCN2A variants have been published, the majority presenting with epilepsy. Large cohort studies and variant-specific electrophysiology, have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers and long-term prognostication for clinicians and families. Herein, we summarise the core phenotypes of SCN2A-related epilepsy, genotype-phenotype correlations, response to medication and future research.

Keywords: BFNIS; Developmental and epileptic encephalopathies; SCN2A.