title: The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.
abstract: The gene SCN5A encodes the main cardiac sodium channel NaV1.5. This channel predominates the cardiac sodium current, INa, which underlies the fast upstroke of the cardiac action potential. As such, it plays a crucial role in cardiac electrophysiology. Over the last 60years a tremendous amount of knowledge regarding its function at the electrophysiological and molecular level has been acquired. Furthermore, genetic studies have shown that mutations in SCN5A are associated with multiple cardiac diseases (e.g. Brugada syndrome, Long QT syndrome, conduction disease and cardiomyopathy), while genetic variation in the general population has been associated with differences in cardiac conduction and risk of arrhythmia through genome wide association studies. In this review we aim to give an overview of the current knowledge (and the gaps therein) on SCN5A and NaV1.5.
authors.affiliation: Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Christiaan C
authors.initials: CC
authors.lastname: Veerman
authors.affiliation: Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.a.wilde@amc.uva.nl.
authors.forename: Arthur A M
authors.initials: AA
authors.lastname: Wilde
authors.affiliation: Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: e.m.lodder@amc.uva.nl.
authors.forename: Elisabeth M
authors.initials: EM
authors.lastname: Lodder
mesh_terms: D000200:Action Potentials; D000818:Animals; D005786:Gene Expression Regulation; D006331:Heart Diseases / Q000235:genetics; D006801:Humans; D009154:Mutation; D009200:Myocardial Contraction; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000502:physiology*; D020033:Protein Isoforms / Q000502:physiology
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; D020033:Protein Isoforms; C568320:SCN5A protein, human