Article
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
The Journal of biological chemistry - 17 Aug 2001
Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori S G, Kass R S
Abstract excerpt
Defects of the SCN5A gene encoding the cardiac sodium channel alpha-subunit are associated with both the long QT-3 (LQT-3) subtype of long-QT syndrome and Brugada syndrome (BrS). One previously described SCN5A mutation (1795insD) in the C terminus results in a clinical phenotype combining QT prolongation and ST segment elevation, indicating a close interrelationship between the two disorders. Here we provide...
Topics
- Heart Block
- Humans
- Long QT Syndrome
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Phenotype
- Sodium Channels