Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.

ABSTRACT: We identified nine patients from four unrelated families harboring three biallelic variants in SCN1B (NM_001037.5: c.136C>T; p.[Arg46Cys], c.178C>T; p.[Arg60Cys], and c.472G>A; p.[Val158Met]). All subjects presented with early infantile epileptic encephalopathy 52 (EIEE52), a rare, severe developmental and epileptic encephalopathy featuring infantile onset refractory seizures followed by developmental stagnation or regression. Because SCN1B influences neuronal excitability through modulation of voltage-gated sodium (Na_V ) channel function, we examined the effects of human SCN1B^R46C (β1^R46C ), SCN1B^R60C (β1^R60C ), and SCN1B^V158M (β1^V158M ) on the three predominant brain Na_V channel subtypes Na_V

SUBMITTER: Scala M 

PROVIDER: S-EPMC8585727 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature