Neuronal KCNQ potassium channels:physislogy and role in disease
Top Cited Papers
- 1 October 2000
- journal article
- review article
- Published by Springer Nature in Nature Reviews Neuroscience
- Vol. 1 (1) , 21-30
- https://doi.org/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.Keywords
This publication has 79 references indexed in Scilit:
- Surface Expression and Single Channel Properties of KCNQ2/KCNQ3, M-type K+ Channels Involved in EpilepsyPublished by Elsevier ,2000
- A KCNQ2 Splice Site Mutation Causing Benign Neonatal Convulsions in a Scottish FamilyNeuropediatrics, 2000
- Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing lossHuman Mutation, 1999
- Long QT syndromes and torsade de pointesThe Lancet, 1999
- SYNAPTIC MECHANISMS FOR CODING TIMING IN AUDITORY NEURONSAnnual Review of Physiology, 1999
- Expression of the gap-junction connexins 26 and 30 in the rat cochleaCell and tissue research, 1998
- KVLQT1 mutations in three families with familial or sporadic long QT syndromeHuman Molecular Genetics, 1996
- Benign familial neonatal convulsions linked to genetic markers on chromosome 20Nature, 1989
- Antagonistic Adrenergic-Muscarinic Regulation of M Current in Smooth Muscle CellsScience, 1988
- Effect of absence of cochlear outer hair cells on behavioural auditory thresholdNature, 1975