Article
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
The Journal of clinical investigation - 1 Jun 2008
Watanabe Hiroshi, Koopmann Tamara T, Le Scouarnec Solena, Yang Tao, Ingram Christiana R, Schott Jean-Jacques, Demolombe Sophie, Probst Vincent, Anselme Frédéric, Escande Denis, Wiesfeld Ans C P, Pfeufer Arne, Kääb Stefan, Wichmann H-Erich, Hasdemir Can, Aizawa Yoshifusa, Wilde Arthur A M, Roden Dan M, Bezzina Connie R
Abstract excerpt
Brugada syndrome is a genetic disease associated with sudden cardiac death that is characterized by ventricular fibrillation and right precordial ST segment elevation on ECG. Loss-of-function mutations in SCN5A, which encodes the predominant cardiac sodium channel alpha subunit NaV1.5, can cause...
Topics
- Adolescent
- Adult
- Brugada Syndrome
- Electrophysiology
- Female
- Genetic Predisposition to Disease
- Heart Diseases
- Humans
- Male
- Middle Aged