Article

Aberrant regulation of a poison exon caused by a non-coding variant in <i>Scn1a</i> -associated epileptic encephalopathy

2020-06-21

Abstract excerpt

Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Na v 1.1 sodium channel encoded by SCN1A . Most known DS-causing mutations are in coding regions of SCN1A , but we recently identified several disease-associated SCN1A mutations in intron 20 that are within or near to a cryptic and evolutionarily conserved “poison” exon, 20N, whose inclusion leads to transcr...

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Literature Corpus work: f47afc5d-083e-5e2c-9284-251fb7a74ce1
DOI: 10.1101/2020.06.21.163428

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