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[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Zhang Xin, Qiu Shiyan, Yang Li, Li Yufen, Xu Na, Yu Xixi

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of five children with epilepsies due to variants of SCN8A gene. METHODS: Clinical data of five children (four males and one female) admitted to Linyi People's Hospital due to hereditary epilepsies between August 2015 and August 2022 were collected. Whole exome sequencing was carried out for these children, and candidate variants were verified by...

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PMID: 38311555
DOI: 10.3760/cma.j.cn511374-20221020-00702

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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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