A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2.

Abstract excerpt

Mutations in hERG (human ether-à-go-go-related gene) potassium channel are closely associated with long QT syndromes. By direct Sanger sequencing, we identified a novel KCNH2 mutation W410R in the patient with long QT syndrome 2 (LQT2). However, the electrophysiological functions of this mutation remain unknown. In comparison to hERGWT channels, hERGW410R channels have markedly decreased total and surface...

Topics

• Action Potentials
• ERG1 Potassium Channel
• Genetic Predisposition to Disease
• HEK293 Cells
• Heart Rate
• Humans
• Long QT Syndrome
• Loss of Function Mutation
• Models, Cardiovascular
• Phenotype