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

• Main Authors: Jiaping Wang (Author), Hua Gao (Author), Xinhua Bao (Author), Qingping Zhang (Author), Jiarui Li (Author), Liping Wei (Author), Xiru Wu (Author), Yan Chen (Author), Shujie Yu (Author)
• Format: Book
• Published: BMC, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...