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Article

Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

Molecular neurobiology - 1 Mar 2018

Liu Zhenwei, Li Zhongshan, Zhi Xiao, Du Yaoqiang, Lin Zhongdong, Wu Jinyu

Abstract excerpt

Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this study, we searched for potential causal DNMs by using high-coverage WES of four unrelated Chinese parent-offspring trios affected by West syndrome....

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Source

Identifiers

PMID: 28386848
DOI: 10.1007/s12035-017-0483-9

Genes

CDKL5
MAMDC2

Provenance

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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