Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.

ABSTRACT: Pathogenic variants in SCN1A result in a spectrum of phenotypes ranging from mild febrile seizures to Dravet syndrome, a severe infant-onset epileptic encephalopathy. Individuals with Dravet syndrome have developmental delays, elevated risk for sudden unexpected death in epilepsy (SUDEP), and have multiple seizure types that are often refractory to treatment. Although most Dravet syndrome variants arise de novo, there are cases where an SCN1A variant was inherited from mildly affected parents, as well as some individuals with de novo loss-of-function or truncation mutations that presented with milder phenotypes. This suggests that disease severity is influenced by other factors that modify expressivity of the primary mutation, which likely includes genetic modifiers. Consistent with this,

SUBMITTER: Kearney JA 

PROVIDER: S-EPMC9616761 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature