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

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 pathogenicSCN9A Y1958C heterozygous mutation in a Chinese family with GEFS+ and provides additional supports thatSCN9A variants may be associated with human epilepsies.

http://link.springer.com/10.1007/s10072-020-04284-x

Source: Neurological Sciences - February 14, 2020 Category: Neurology Source Type: research