Ion channel diseases
Open Access
- 1 October 2002
- journal article
- review article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 11 (20) , 2435-2445
- https://doi.org/10.1093/hmg/11.20.2435
Abstract
Ion channels serve many functions apart from electrical signal transduction: chemical signalling (Ca2+ as a second messenger), transepithelial transport, regulation of cytoplasmic or vesicular ion concentration and pH, and regulation of cell volume. Therefore, ion channel dysfunction can cause diseases in many tissues. The list of human diseases known to be associated with defects in ion channels has grown considerably during the past years. This review gives a short overview of known channelopathies, and focuses in particular on recent findings and on channelopathies that have significantly advanced our physiological insight.Keywords
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