Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome

Dravet syndrome is considered to be one of the most severe types of genetic epilepsy. Mutations in SCN1A gene have been found to be responsible for at least 80% of patients with Dravet syndrome, and 90% of these mutations arise de novo. The variable clinical phenotype is commonly observed among thes...

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Detalles Bibliográficos
Autores principales: Jiang, TieJia, Shen, Yaping, Chen, Huai, Yuan, Zhefeng, Mao, Shanshan, Gao, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320057/
https://www.ncbi.nlm.nih.gov/pubmed/30558019
http://dx.doi.org/10.1097/MD.0000000000013565

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