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Article

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

PLoS genetics - 1 Jan 2021

Voskobiynyk Yuliya, Battu Gopal, Felker Stephanie A, Cochran J Nicholas, Newton Megan P, Lambert Laura J, Kesterson Robert A, Myers Richard M, Cooper Gregory M, Roberson Erik D, Barsh Gregory S

Abstract excerpt

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 several disease-associated SCN1A mutations in intron 20 that are within or near to a cryptic and evolutionarily conserved "poison" exon, 20N, whose inclusion is predicted to lead to...

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Identifiers

PMID: 33411788
DOI: 10.1371/journal.pgen.1009195
PMCID: PMC7790302

Genes

SCN1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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