Genetic Control of Potassium Channels

Card Electrophysiol Clin. 2016 Jun;8(2):285-306. doi: 10.1016/j.ccep.2016.01.003. Epub 2016 Mar 26.

Abstract

Approximately 80 genes in the human genome code for pore-forming subunits of potassium (K(+)) channels. Rare variants (mutations) in K(+) channel-encoding genes may cause heritable arrhythmia syndromes. Not all rare variants in K(+) channel-encoding genes are necessarily disease-causing mutations. Common variants in K(+) channel-encoding genes are increasingly recognized as modifiers of phenotype in heritable arrhythmia syndromes and in the general population. Although difficult, distinguishing pathogenic variants from benign variants is of utmost importance to avoid false designations of genetic variants as disease-causing mutations.

Keywords: Atrial fibrillation; Brugada syndrome; Cardiac potassium channel; Gene; Long QT syndrome; Short QT syndrome; Ventricular fibrillation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Arrhythmias, Cardiac / genetics*
  • Humans
  • Mutation
  • Phenotype
  • Potassium Channels / genetics*

Substances

  • Potassium Channels