A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A, the gene encoding neuronal sodium channel Nav1.1. Earlier studies using human induced pluripotent stem cells (iPSCs) have produced mixed results regarding the importance of Nav1.1 in human in...

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Bibliographic Details
Main Authors: Yishan Sun, Sergiu P Paşca, Thomas Portmann, Carleton Goold, Kathleen A Worringer, Wendy Guan, Karen C Chan, Hui Gai, Daniel Vogt, Ying-Jiun J Chen, Rong Mao, Karrie Chan, John LR Rubenstein, Daniel V Madison, Joachim Hallmayer, Wendy M Froehlich-Santino, Jonathan A Bernstein, Ricardo E Dolmetsch
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2016-07-01
Series:eLife
Subjects:
Dravet Syndrome
NaV1.1
SCN1A
iPSC
interneurons
Online Access:https://elifesciences.org/articles/13073

Internet

https://elifesciences.org/articles/13073

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