Article
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2015
Wang Lumin, Meng Xiangyun, Yuchi Zhiguang, Zhao Zhenghang, Xu Dehui, Fedida David, Wang Zhuren, Huang Chen
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is a genetically determined cardiac electrical disorder, characterized by typical electrocardiography (ECG) alterations, and it is an arrhythmogenic syndrome that may lead to sudden cardiac death. The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na(+)) channel (Nav1.5) by different...
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