Modifier genes in SCN1A-related epilepsy syndromes.
Iris M de LangeFlip MulderRuben van 't SlotAnja C M SonsmaMarjan J A van KempenIsaac J NijmanRobert F ErnstNine V A M KnoersEva H BrilstraBobby P C KoelemanPublished in: Molecular genetics & genomic medicine (2020)
Our results indicate that relatively common variants in epilepsy genes, which would not necessarily be classified as pathogenic, may play a large role in modulating SCN1A phenotypes. They may modify the phenotypes of both severely and mildly affected patients. Our results may be a first step toward meaningful testing of modifier gene variants in regular diagnostics for individual patients, to provide a better estimation of disease severity for newly diagnosed patients.