Article
SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells.
FEBS letters - 4 Feb 2000
Baroudi G, Carbonneau E, Pouliot V, Chahine M
Abstract excerpt
Brugada syndrome is a hereditary cardiac disease causing abnormal ST segment elevation in the ECG, right bundle branch block, ventricular fibrillation and sudden death. In this study we characterized a new mutation in the SCN5A gene (T1620M), causing the Brugada syndrome. The mutated channels wer...
Topics
- Amino Acid Substitution
- Animals
- Cell Line
- Electric Conductivity
- Gene Expression
- Humans
- Kinetics
- Mutation
- Myocardium
- NAV1.5 Voltage-Gated Sodium Channel
- Oocytes
- Patch-Clamp Techniques
- Phenotype
- Sodium
- Sodium Channels
- Syndrome
- Ventricular Fibrillation
- Xenopus laevis