Article
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
Circulation - 1 Mar 2005
Rossenbacker Tom, Mubagwa Kanigula, Jongbloed Roselie J, Vereecke Johan, Devriendt Koen, Gewillig Marc, Carmeliet Edward, Collen Désiré, Heidbüchel Hein, Carmeliet Peter
Abstract excerpt
BACKGROUND: It has been proposed that the highest risk for cardiac events in patients with long-QT syndrome subtype 2 (LQT2) is related to mutations in the pore region of the KCNH2 channel. It has also been suggested that a subpopulation of LQT2 patients may benefit from pharmacological therapy with modified KCNH2 channel-blocking drugs. METHODS AND RESULTS: In a large LQT2 family (n=33), we have identified a...
Topics
- Adult
- Blotting, Western
- Cell Line
- Death, Sudden, Cardiac
- ERG1 Potassium Channel
- Electrophysiology
- Ether-A-Go-Go Potassium Channels
- Female
- Glutamic Acid
- Humans