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Article

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.

Seizure - 1 Dec 2025

Chen Yinhui, Zeng Cizheng, Luo Chengzhu, Huang Binglong, Chen Siqi, Deng Wenhao, Lan Shaocong, Li Chengyan

Abstract excerpt

OBJECTIVE: To investigate genetic factors in pediatric refractory epilepsy using trio-whole exome sequencing (trio-WES) and to evaluate the impact of genetic diagnosis on treatment optimization. METHODS: Participants diagnosed with refractory epilepsy were recruited between September 2021 and June 2024. Clinical phenotypes were systematically assessed, and trio-WES was performed to facilitate precision medicine...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 41197259
DOI: 10.1016/j.seizure.2025.10.022

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