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Article

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

Journal of human genetics - 1 Jul 2010

Sun Huihui, Zhang Yuehua, Liu Xiaoyan, Ma Xiuwei, Yang Zhixian, Qin Jiong, Jiang Yuwu, Qi Yu, Wu Xiru

Abstract excerpt

Dravet syndrome (DS) or severe myoclonic epilepsy of infancy is an intractable epileptic syndrome that is caused by mutations in the neuronal voltage-gated sodium channel alpha1 subunit gene SCN1A. We investigated SCN1A mutations in 63 Chinese patients with DS and analyzed its inheritance. Genomic DNA was extracted from peripheral blood lymphocytes of DS patients and their available parents. The SCN1A open...

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Identifiers

PMID: 20431604
DOI: 10.1038/jhg.2010.39

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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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