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[Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012

Xu Xiao-jing, Zhang Yue-hua, Sun Hui-hui, Liu Xiao-yan, Jiang Yu-wu, Wu Xi-ru

Abstract excerpt

OBJECTIVE: To study SCN1A gene mutations and their inheritance in patients with Dravet syndrome(DS), and to analyze the phenotypes of their family members and genotype-phenotype correlations. METHODS: Genomic DNA was extracted from peripheral blood samples from 181 DS patients and their parents. Phenotypes of affected members were analyzed. SCN1A gene mutations were screened using PCR-DNA sequencing and multiplex...

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Identifiers

PMID: 23225037
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.001

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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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