SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epil...

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Detalles Bibliográficos
Autores principales: Wang, Jiaping, Gao, Hua, Bao, Xinhua, Zhang, Qingping, Li, Jiarui, Wei, Liping, Wu, Xiru, Chen, Yan, Yu, Shujie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604297/
https://www.ncbi.nlm.nih.gov/pubmed/28923014
http://dx.doi.org/10.1186/s12881-017-0460-1

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