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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Autores principales: Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/a1aa4273b54243acad864b1e15474333
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