GeneticsPLoS GeneticsPeer-reviewed
Aberrant regulation of a poison exon caused by a non-coding variant in Scn1a-associated epileptic encephalopathy
Yuliya Voskobiynyk, Gopal Battu, Stephanie A. Felker…·Gregory S. Barsh
This study identifies a non-coding variant in SCN1A that causes aberrant inclusion of a poison exon, leading to reduced Nav1.1 expression and Dravet syndrome in a mouse model.
33 citations