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Article

[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2009

Sun Huihui, Zhang Yuehua, Liu Xiaoyan, Ma Xiuwei, Wu Husheng, Xu Keming, Qin Jiong, Qi Yu, Wu Xiru

Abstract excerpt

OBJECTIVE: To investigate the mutations of the sodium channel alpha 1 subunit gene SCN1A in severe myoclonic epilepsy of infancy (SMEI) patients and analyze its inheritance. METHODS: Twenty-three patients consistent with the diagnosis of SMEI were selected for SCN1A mutation analysis. Genomic DNA was extracted from peripheral blood lymphocytes of these patients and their parents. All the twenty-six exons of the...

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Identifiers

PMID: 19350499
DOI: 10.3760/cma.j.issn.1003-9406.2009.02.001

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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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