A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid, p.N641Y, in the large cytoplasmic loop between...

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Bibliographic Details
Main Authors: Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer, H Steve White, Francis Filloux, Mark F Leppert
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2730533?pdf=render

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http://europepmc.org/articles/PMC2730533?pdf=render

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