Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations in...

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Detalles Bibliográficos
Autores principales: Kwong, Anna Ka-Yee, Fung, Cheuk-Wing, Chan, Siu-Yuen, Wong, Virginia Chun-Nei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405017/
https://www.ncbi.nlm.nih.gov/pubmed/22848613
http://dx.doi.org/10.1371/journal.pone.0041802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405017/
https://www.ncbi.nlm.nih.gov/pubmed/22848613
http://dx.doi.org/10.1371/journal.pone.0041802

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