Article
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2006
Modell Stephen M, Lehmann Michael H
Abstract excerpt
Long QT syndrome (LQTS) refers to a group of "channelopathies"-disorders that affect cardiac ion channels. The "family" concept of syndromes has been applied to the multiple LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation and slowed ventricular repolarization. The 470+ allelic mutations induce loss-of-function in the passage of mainly K+ ions, and gain-of-function in the...
Topics
- Forecasting
- Gene Frequency
- Genetic Testing
- Humans
- Ion Channels
- Long QT Syndrome
- Mutation
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Torsades de Pointes