Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.

ABSTRACT: Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel ?-subunit (NaV1.1), and GABRA1 gene, encoding the ?1 subunit of the ?-aminobutyric acid type A (GABAA) receptor, while seldom related with SCN9A gene, encoding the voltage-gated sodium channel NaV1.7. In this study, we investigated a Chinese family with an autosomal dominant form of GEFS+. DNA sequencing of the whole coding region revealed a novel heterozygous nucleotide substitution (c.5873A>G) causing a missense mutation (p.Y1958C). This mutation was predicted to be deleterious by three different bioinformatics programs (The polyphen2, SIFT, and MutationTaster). Our finding reports a novel likely pathogenic SCN9A Y1958C heterozygous mutation in a Chinese family with GEFS+ and provides additional supports that SCN9A variants may be associated with human epilepsies.

SUBMITTER: Zhang T 

PROVIDER: S-EPMC7359139 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature