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

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

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...

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Bibliographic Details
Main Authors: Yuliya Voskobiynyk, Gopal Battu, Stephanie A Felker, J Nicholas Cochran, Megan P Newton, Laura J Lambert, Robert A Kesterson, Richard M Myers, Gregory M Cooper, Erik D Roberson, Gregory S Barsh
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-01-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009195

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https://doi.org/10.1371/journal.pgen.1009195

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