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

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

Abstract 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 fr...

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Bibliographic Details
Main Authors: Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
Format: Article
Language:English
Published: BMC 2017-09-01
Series:BMC Medical Genetics
Subjects:
SCN8A
Epileptic encephalopathy
Family cases
Online Access:http://link.springer.com/article/10.1186/s12881-017-0460-1

Internet

http://link.springer.com/article/10.1186/s12881-017-0460-1

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