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 Brugada syndrome and cardiac conduction disease. However, SCN5A mutations are not detected in the majority of patients...
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