Article
Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
Circulation. Arrhythmia and electrophysiology - 1 Feb 2013
Calloe Kirstine, Refaat Marwan M, Grubb Soren, Wojciak Julianne, Campagna Joan, Thomsen Nancy Mutsaers, Nussbaum Robert L, Scheinman Melvin M, Schmitt Nicole
Abstract excerpt
BACKGROUND: Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associat...
Topics
- Action Potentials
- Adult
- Animals
- Brugada Syndrome
- CHO Cells
- Cricetinae
- Cricetulus
- DNA Mutational Analysis
- Electrocardiography
- Female
- Genetic Predisposition to Disease
- Haploinsufficiency
- Heterozygote
- Humans
- Kinetics