Article
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
Cardiovascular research - 1 Jun 2008
Petitprez Séverine, Jespersen Thomas, Pruvot Etienne, Keller Dagmar I, Corbaz Cora, Schläpfer Jürg, Abriel Hugues, Kucera Jan P
Abstract excerpt
AIMS: Brugada syndrome (BrS) is characterized by arrhythmias leading to sudden cardiac death. BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na(v)1.5. Here, we aimed to characterize the biophysical properties and consequences of a novel BrS SCN5A mutation. METHODS AND RESULTS: SCN5A was screened for mutations in a male patient with type-1 BrS pattern ECG....
Topics
- Action Potentials
- Brugada Syndrome
- Cell Line
- Computer Simulation
- Defibrillators, Implantable
- Electrocardiography
- Genetic Predisposition to Disease
- Heart Conduction System
- Heart Rate
- Humans