Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

Abstract Background Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishm...

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Bibliographic Details
Main Authors: Linlin Zhang, Jinshuang Gao, Hailiang Liu, Yuan Tian, Xiaoli Zhang, Wei Lei, Ying Li, Yaqing Guo, Haiyang Yu, Erfeng Yuan, Lisi Liang, Shihong Cui, Xiaoan Zhang
Format: Article
Language:English
Published: BMC 2020-12-01
Series:Human Genomics
Subjects:
Epilepsy
Whole-exome sequencing (WES)
Diagnostic yield
Pathogenic
De novo
Online Access:https://doi.org/10.1186/s40246-020-00294-0

Internet

https://doi.org/10.1186/s40246-020-00294-0

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