title: Genetic control of sodium channel function.
abstract: 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.
authors.affiliation: Experimental and Molecular Cardiology Group, Department of Cardiology, Academic Medical Center, Room M0-052, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands. h.l.tan@amc.uva.nl <h.l.tan@amc.uva.nl>
authors.forename: Hanno L
authors.initials: HL
authors.lastname: Tan
authors.forename: Connie R
authors.initials: CR
authors.lastname: Bezzina
authors.forename: Jeroen P P
authors.initials: JP
authors.lastname: Smits
authors.forename: Arie O
authors.initials: AO
authors.lastname: Verkerk
authors.forename: Arthur A M
authors.initials: AA
authors.lastname: Wilde
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D015222:Sodium Channels