Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies

Abstract Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this...

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Bibliographic Details
Main Authors:	Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Format:	Article
Language:	English
Published:	Nature Publishing Group 2017-03-01
Series:	Scientific Reports
Online Access:	https://doi.org/10.1038/s41598-017-00208-6

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