Article
Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.
The Journal of clinical investigation - 1 Oct 2002
Grant Augustus O, Carboni Michael P, Neplioueva Valentina, Starmer C Frank, Memmi Mirella, Napolitano Carlo, Priori Silvia
Abstract excerpt
The function of the 12 positive charges in the 53-residue III/IV interdomain linker of the cardiac Na(+) channel is unclear. We have identified a four-generation family, including 17 gene carriers with long QT syndrome, Brugada syndrome, and conduction system disease with deletion of lysine 1500...
Topics
- Arrhythmias, Cardiac
- Cell Line
- Death, Sudden, Cardiac
- Female
- Genetic Linkage
- Humans
- Ion Channel Gating
- Long QT Syndrome
- Male
- Mutation
- Myocardium
- Pedigree
- Phenotype
- Recombinant Proteins
- Sequence Deletion
- Sodium Channels
- Syndrome