Cardiovascular Research 2003 57(4):961-973; doi:10.1016/S0008-6363(02)00714-9
© 2003 by European Society of Cardiology
Copyright © 2003, European Society of Cardiology
Genetic control of sodium channel function
aExperimental and Molecular Cardiology Group, Department of Cardiology, Academic Medical Center, Room M0-052, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands
bDepartment of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
h.l.tan{at}amc.uva.nl
* Corresponding author. Tel.: +31-20-566-3265; fax: +31-20-697-5458.
* For this manuscript Dr. Stanley Nattel acted as Guest Editor.
Sodium ion (Na) influx through cardiac Na channels triggers the action potential in cells of the working myocardium and the specialized conduction system. Na channels thus act as key molecular determinants of cardiac excitability and impulse propagation. Na channel dysfunction may cause life-threatening arrhythmias. Here, we review the ways in which Na channel function can be aberrant due to genetic changes. We discuss how biophysical studies of mutant Na channels combined with precise clinical phenotyping may improve our understanding of Na channel function in health and disease and may be useful as a model from which to derive improved treatment strategies for common disease.
KEYWORDS Arrhythmia mechanisms; Long QT syndrome; Na-channel; Sudden death; Ventricular arrhythmias
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