Neuronal KCNQ potassium channels: physiology and role in disease.
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.
Zentrum für Molekulare Neurobiologie Hamburg, ZMNH, Hamburg University, Martinistrasse 85, D-20246 Hamburg, Germany. jentsch@plexus.uke.uni-hamburg.de
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D000818:Animals; D001933:Brain Stem / Q000502:physiology*; D003638:Deafness / Q000235:genetics; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D006198:Hair Cells, Auditory / Q000502:physiology*; D006309:Hearing / Q000502:physiology*; D006801:Humans; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D008133:Long QT Syndrome / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D020033:Protein Isoforms
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D020033:Protein Isoforms