Article
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.
Circulation. Cardiovascular genetics - 1 Jun 2009
Hu Dan, Barajas-Martinez Hector, Burashnikov Elena, Springer Michael, Wu Yuesheng, Varro Andras, Pfeiffer Ryan, Koopmann Tamara T, Cordeiro Jonathan M, Guerchicoff Alejandra, Pollevick Guido D, Antzelevitch Charles
Abstract excerpt
BACKGROUND: Brugada syndrome, characterized by ST-segment elevation in the right precordial ECG leads and the development of life-threatening ventricular arrhythmias, has been associated with mutations in 6 different genes. We identify and characterize a mutation in a new gene. METHODS AND RESULTS: A 64-year-old white male displayed a type 1 ST-segment elevation in V1 and V2 during procainamide challenge....
Topics
- Amino Acid Sequence
- Brugada Syndrome
- Cell Line
- Electrocardiography
- Green Fluorescent Proteins
- Humans
- Male
- Middle Aged
- Mutation, Missense
- Patch-Clamp Techniques