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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2730533/
https://www.ncbi.nlm.nih.gov/pubmed/19763161
http://dx.doi.org/10.1371/journal.pgen.1000649

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2730533/
https://www.ncbi.nlm.nih.gov/pubmed/19763161
http://dx.doi.org/10.1371/journal.pgen.1000649

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