Article
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
Journal of medical genetics - 1 May 2005
Rossenbacker T, Schollen E, Kuipéri C, de Ravel T J L, Devriendt K, Matthijs G, Collen D, Heidbüchel H, Carmeliet P
Abstract excerpt
BACKGROUND: Mutations in the cardiac sodium channel, SCN5A, have been associated with one type of long-QT syndrome, with isolated cardiac conduction defects and Brugada syndrome. The sodium channelopathies exhibit marked variation in clinical phenotypes. The mechanisms underlying the phenotypical diversity, however, remain unknown. Exonic SCN5A mutations can be detected in 20% of Brugada syndrome patients....
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Arrhythmias, Cardiac
- Child
- DNA Mutational Analysis
- Female
- Humans
- Introns
- Male
- Middle Aged