Epilepsy-associated SCN2A (Na _V 1.2) Variants Exhibit Diverse and Complex Functional Properties.

ABSTRACT: Pathogenic variants in neuronal voltage-gated sodium (Na _V ) channel genes including SCN2A , which encodes Na _V 1.2, are frequently discovered in neurodevelopmental disorders with and without epilepsy. SCN2A is also a high confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability (ID). Previous work to determine the functional consequences of SCN2A variants yielded a paradigm in which predominantly gain-of-function (GoF) variants cause epilepsy whereas loss-of-function (LoF) variants are associated with ASD and ID. However, this framework is based on a limited number of functional studies conducted under heterogenous experimental conditions whereas most disease-associated SCN2A variants have not been f

SUBMITTER: Thompson CH 

PROVIDER: S-EPMC9980081 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature