| Literature DB >> 11252765 |
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.Entities:
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Year: 2000 PMID： 11252765 DOI： 10.1038/35036198
Source DB: PubMed Journal: Nat Rev Neurosci ISSN： 1471-003X Impact factor: 34.870