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Neuronal KCNQ potassium channels: physiology and role in disease

Item Type:Review
Title:Neuronal KCNQ potassium channels: physiology and role in disease
Creators Name:Jentsch, T.J.
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.
Keywords:Brain Stem, Deafness, Benign Neonatal Epilepsy, Auditory Hair Cells, Hearing, Potassium Channels, Long QT Syndrome, Mutation, Protein Isoforms, Animals
Source:Nature Reviews Neuroscience
ISSN:1471-0048
Publisher:Nature Publishing Group (U.K.)
Volume:1
Number:1
Page Range:21-30
Date:October 2000
Official Publication:https://doi.org/10.1038/35036198
PubMed:View item in PubMed

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