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 from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth. A detailed clinical history was obtained.

Results

A heterozygous missense mutation of SCN8A was identified in the Chinese family. Six de novo mutations of SCN8A were detected in 6 sporadic patients with epilepsy. In the family, six members developed seizures within a few years

SUBMITTER: Wang J 

PROVIDER: S-EPMC5604297 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature