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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2012
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| Materias: | |
| 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 |