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Article

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

Clinical genetics - 1 May 2017

Zhang Q, Li J, Zhao Y, Bao X, Wei L, Wang J

Abstract excerpt

The aim of the study is to investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early-onset epileptic encephalopathies (EOEEs). Targeted next-generation sequencing (NGS), focusing on 17 genes, was performed on 175 Chinese patients with EOEEs to screen gene mutations. The mutation rate was 32% (56/175). All mutations were de novo and heterozygous, including 41 novel...

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Source

Identifiers

PMID: 27779742
DOI: 10.1111/cge.12901

Genes

CDKL5
KCNQ2

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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