Article
Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
Scientific reports - 27 Jan 2014
Juang Jyh-Ming Jimmy, Lu Tzu-Pin, Lai Liang-Chuan, Hsueh Chia-Hsiang, Liu Yen-Bin, Tsai Chia-Ti, Lin Lian-Yu, Yu Chih-Chieh, Hwang Juey-Jen, Chiang Fu-Tien, Yeh Sherri Shih-Fan, Chen Wen-Pin, Chuang Eric Y, Lai Ling-Ping, Lin Jiunn-Lee
Abstract excerpt
Brugada syndrome (BrS) is an inheritable sudden cardiac death disease mainly caused by SCN5A mutations. Traditional approaches can be costly and time-consuming if all candidate variants need to be validated through in vitro studies. Therefore, we developed a new approach by combining multiple in silico analyses to predict functional and structural changes of candidate SCN5A variants in BrS before conducting in...
Topics
- Adult
- Brugada Syndrome
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques
- Protein Structure, Secondary