Novel and de novo mutations in pediatric refractory epilepsy

Novel and de novo mutations in pediatric refractory epilepsy

Abstract Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing...

Full description

Bibliographic Details
Main Authors: Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Clement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Molecular Brain
Subjects:
Refractory epilepsy
Next-generation sequencing
ACMG scoring
Online Access:http://link.springer.com/article/10.1186/s13041-018-0392-5

Similar Items

Similar Items