Article
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
Journal of biomedical science - 20 Feb 2009
Hsueh Chia-Hsiang, Chen Wen-Pin, Lin Jiunn-Lee, Tsai Chia-Ti, Liu Yen-Bin, Juang Jyh-Ming, Tsao Hsuan-Ming, Su Ming-Jai, Lai Ling-Ping
Abstract excerpt
The Brugada syndrome is characterized by ST segment elevation in the right precodial leads V1-V3 on surface ECG accompanied by episodes of ventricular fibrillation causing syncope or even sudden death. The molecular and cellular mechanisms that lead to Brugada syndrome are not yet completely understood. However, SCN5A is the most well known responsible gene that causes Brugada syndrome. Until now, more than a...
Topics
- Brugada Syndrome
- Cell Line
- DNA Mutational Analysis
- Electrocardiography
- Humans
- Ion Channel Gating
- Muscle Proteins
- Mutagenesis, Site-Directed
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel