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Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.

Seizure - 1 Oct 2024

You Cuiping, Xu Liyun, Zhu Liping, Qiu Shiyan, Xu Na, Wang Yanyan, Yang Li

Abstract excerpt

INTRODUCTION: Increasing evidence reveals critical roles for CHD2 in children with developmental and epileptic encephalopathy. OBJECTIVES: The aim was to present clinical analysis results of five cases with CHD2 mutations and 157 reported cases with non-copy number variations (non-CNV) of CHD2. METHODS: This study recruited pediatric epilepsy patients with CHD2 mutations and clinical data from November 2016 to...

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Identifiers

PMID: 39068850
DOI: 10.1016/j.seizure.2024.07.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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