Article
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.
Circulation research - 11 Jan 2002
Baroudi Ghayath, Acharfi Said, Larouche Chantal, Chahine Mohamed
Abstract excerpt
Brugada syndrome is an inherited cardiac disorder caused by mutations in the cardiac sodium channel gene, SCN5A, that leads to ventricular fibrillation and sudden death. This study reports the changes in functional expression and cellular localization of an SCN5A double mutant (R1232W/T1620M) rec...
Topics
- Animals
- Animals, Newborn
- Cell Line
- Gene Expression
- Genotype
- Heart Ventricles
- Humans
- Immunohistochemistry
- Membrane Potentials
- Microscopy, Confocal
- Mutation, Missense
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques
- Rats
- Rats, Sprague-Dawley
- Sodium Channels
- Syndrome
- Transfection