Article
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PLoS genetics - 1 Sept 2009
Singh Nanda A, Pappas Chris, Dahle E Jill, Claes Lieve R F, Pruess Timothy H, De Jonghe Peter, Thompson Joel, Dixon Missy, Gurnett Christina, Peiffer Andy, White H Steve, Filloux Francis, Leppert Mark F
Abstract excerpt
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 transmembrane domains I and II that was absent from 586 ethnically matched population control chromosomes. To...
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