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Article

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Scientific reports - 11 Jan 2017

Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang Yi

Abstract excerpt

Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28074849
DOI: 10.1038/srep40319
PMCID: PMC5225856

Genes

CDKL5
CHD2
CLCN6
EFHC1
GABRE
MBD5
MYH1
POLG
STXBP1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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