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Article

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Pediatric research - 1 Jun 2026

Zhang Shuyue, Wang Xuetao, Meng Jing, Li Jiaci, Dong Yan, Li Dong, Shu Jianbo, Cai Chunquan

Abstract excerpt

BACKGROUND: Copy number variations (CNVs) are considered to be associated with various neurocognitive disorders, particularly severe pediatric conditions such as intellectual disability and epilepsy. In this study, our aim is to determine the distribution and pathogenicity of CNVs in pediatric epilepsy patients, thereby expanding the spectrum of related syndromes or gene phenotypes, explore potential new epilepsy...

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PMID: 40993358
DOI: 10.1038/s41390-025-04427-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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