Article
A novel mutation in the SCN5A gene is associated with Brugada syndrome.
Life sciences - 30 Jan 2007
Shin Dong-Jik, Kim Eunmin, Park Sang-Bum, Jang Won-Cheoul, Bae Yoonsun, Han Jihye, Jang Yangsoo, Joung Boyoung, Lee Moon Hyoung, Kim Sung Soon, Huang Hai, Chahine Mohamed, Yoon Sungjoo Kim
Abstract excerpt
Brugada syndrome (BS) is an inherited cardiac disorder associated with a high risk of sudden cardiac death and is caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit (Na(v)1.5). The aim of this study was to identify the genetic cause of familial BS and characte...
Topics
- Adult
- Aged
- Brugada Syndrome
- Cell Line
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Male
- Middle Aged
- Muscle Proteins
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques