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Human Molecular Genetics, 2002, Vol. 11, No. 20 2435-2445
© 2002 Oxford University Press

Ion channel diseases

Christian A. Hübner1,2 and Thomas J. Jentsch1,*

1Zentrum für Molekulare Neurobiologie Hamburg (ZMNH), Universität Hamburg, Falkenried 94, D-20246 Hamburg, Germany and 2Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, D-20246 Hamburg, Germany

Received June 28, 2002; Accepted July 4, 2002

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.

* To whom correspondence should be addressed. Tel: +49 40428034741; Fax: +49 40428034839; Email: jentsch{at}zmnh.uni-hamburg.de


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