Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy
Sign Up to like & getrecommendations! Published in 2021 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009195
Abstract: Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified… read more here.
Keywords: epileptic encephalopathy; poison exon; exon 20n; scn1a ... See more keywords