Article
Modifier genes in SCN1A-related epilepsy syndromes.
Molecular genetics & genomic medicine - 1 Apr 2020
de Lange Iris M, Mulder Flip, van 't Slot Ruben, Sonsma Anja C M, van Kempen Marjan J A, Nijman Isaac J, Ernst Robert F, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P C
Abstract excerpt
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...
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