Functional analysis of a novel SCN5A mutation G1712C identified in Brugada syndrome

• Published in: Nan fang yi ke da xue xue bao = Journal of Southern Medical University Vol. 37; no. 2; p. 256
• Main Authors: Chen, Yan-Yu, Liu, Shen-Rong, Xie, Liang-Zhen, Zhu, Ting-Yan, Chen, Yi-Zhen, Deng, Xiao-Jiang, Meng, Su-Rong, Peng, Jian
• Format: Journal Article
• Language: Chinese
• Published: China 20.02.2016
• Subjects: Brugada Syndrome - genetics; Genotype; HEK293 Cells; Humans; Mutagenesis, Site-Directed; Mutation; NAV1.5 Voltage-Gated Sodium Channel - genetics; Patch-Clamp Techniques; Polymerase Chain Reaction; Transfection

To elucidate the molecular and electrophysiological mechanisms of Brugada syndrome through functional analysis of a novel SCN5A gene mutation G1712C. A recombinant plasmid pRc<CMV-hH1 containing the mutant human cardiac sodium channel α subunit (hH1) cDNA was constructed using in vitro PCR-based...