Abstract
HERG Channel Dysfunction in LQT2. LQT2 is one form of the congenital long QT syndrome. It results from mutations in the human ether-a-go-go-related gene (HERG), and more than 80 mutations, usually causing single amino acid substitutions in the HERG protein, are known. HERG encodes the ion channel pore-forming subunit protein for the rapidly activating delayed rectifier K+ channel (IKr) in the heart. This review summarizes current findings about mutations causing LQT2, the mechanisms by which mutations may cause the clinical phenotype of a reduction in IKr and a prolonged QT interval, and how this may be involved in the generation of ventricular arrhythmias.
Original language | English (US) |
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Pages (from-to) | 1413-1418 |
Number of pages | 6 |
Journal | Journal of cardiovascular electrophysiology |
Volume | 11 |
Issue number | 12 |
DOIs | |
State | Published - 2000 |
Externally published | Yes |
Keywords
- Arrhythmia
- Cardiac action potentials
- HERG
- Long QT syndrome
- Potassium channels
- Sudden death
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Physiology (medical)