Modifier genes in SCN1A-related epilepsy syndromes.

ABSTRACT:

Background

SCN1A is one of the most important epilepsy-related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A-related phenotypes. We investigate the presence of rare and more common variants in epilepsy-related genes as potential modifiers of SCN1A-related disease severity.

Methods

87 patients with SCN1A-related epilepsy were investigated. Whole-exome sequencing was performed by the Beijing Genomics Institute (BGI). Functional variants in 422 genes associated with epilepsy and/or neuronal excitability were investigated. Differences in proportions of variants between the epilepsy genes and four control gene sets were calculated, and compared to the proportion

SUBMITTER: de Lange IM 

PROVIDER: S-EPMC7196470 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature