Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

ABSTRACT:

Background

Deleterious variants in the voltage-gated sodium channel type 2 (Na_v1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood.

Methods

To further elucidate the genotype-phenotype correlation of SCN2A variants we investigated the functional effects of six variants representing the phenotypic spectrum by whole-cell patch-clamp studies in transfected HEK293T cells and in-silico structural modeling.

Results

The two variants p.L1342P and p.E1803G detected in patients with early onset epileptic encephalopathy (EE)

SUBMITTER: Begemann A 

PROVIDER: S-EPMC6391808 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature