Neuronal KCNQ Potassium Channels: Physiology and Role in Disease

Nat Rev Neurosci. 2000 Oct;1(1):21-30. doi: 10.1038/35036198.

Abstract

Humans have over 70 potassium channel genes, but only some of these have been linked to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations in four out of five KCNQ genes underlie diseases including cardiac arrhythmias, deafness and epilepsy. These disorders illustrate the different physiological functions of KCNQ channels, and provide a model for the study of the 'safety margin' that separates normal from pathological levels of channel expression. In addition, several KCNQ isoforms can associate to form heteromeric channels that underlie the M-current, an important regulator of neuronal excitability.

Publication types

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

MeSH terms

  • Animals
  • Brain Stem / physiology*
  • Deafness / genetics
  • Epilepsy, Benign Neonatal / genetics*
  • Hair Cells, Auditory / physiology*
  • Hearing / physiology*
  • Humans
  • KCNQ2 Potassium Channel
  • KCNQ3 Potassium Channel
  • Long QT Syndrome / genetics
  • Mutation / genetics*
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated
  • Protein Isoforms

Substances

  • KCNQ2 Potassium Channel
  • KCNQ2 protein, human
  • KCNQ3 Potassium Channel
  • KCNQ3 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • Protein Isoforms