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Article

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

Scientific reports - 21 Mar 2017

Lin Zhongdong, Liu Zhenwei, Li Xiucui, Li Feng, Hu Ying, Chen Bingyu, Wang Zhen, Liu Yong

Abstract excerpt

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 study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a...

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Identifiers

PMID: 28325891
DOI: 10.1038/s41598-017-00208-6
PMCID: PMC5428060

Genes

RTP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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