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Article

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

eLife - 26 Jul 2016

Sun Yishan, Paşca Sergiu P, Portmann Thomas, Goold Carleton, Worringer Kathleen A, Guan Wendy, Chan Karen C, Gai Hui, Vogt Daniel, Chen Ying-Jiun J, Mao Rong, Chan Karrie, Rubenstein John Lr, Madison Daniel V, Hallmayer Joachim, Froehlich-Santino Wendy M, Bernstein Jonathan A, Dolmetsch Ricardo E

Abstract excerpt

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 inhibitory versus excitatory neurons. We studied a Nav1.1 mutation (p.S1328P) identified in a pair of twins with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27458797
DOI: 10.7554/eLife.13073
PMCID: PMC4961470

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