title: Channelopathies from mutations in the cardiac sodium channel protein complex.
abstract: The cardiac sodium current underlies excitability in heart, and inherited abnormalities of the proteins regulating and conducting this current cause inherited arrhythmia syndromes. This review focuses on inherited mutations in non-pore forming proteins of sodium channel complexes that cause cardiac arrhythmia, and the deduced mechanisms by which they affect function and dysfunction of the cardiac sodium current. Defining the structure and function of these complexes and how they are regulated will contribute to understanding the possible roles for this complex in normal and abnormal physiology and homeostasis. This article is part of a Special Issue entitled "Na(+) Regulation in Cardiac Myocytes".
authors.affiliation: Department of Medicine, Division of Cardiovascular Medicine, University of Wisconsin, Madison, WI 53792, USA.
authors.forename: Graham S
authors.initials: GS
authors.lastname: Adsit
authors.forename: Ravi
authors.initials: R
authors.lastname: Vaidyanathan
authors.forename: Carla M
authors.initials: CM
authors.lastname: Galler
authors.forename: John W
authors.initials: JW
authors.lastname: Kyle
authors.forename: Jonathan C
authors.initials: JC
authors.lastname: Makielski
mesh_terms: D000818:Animals; D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000235:genetics / Q000378:metabolism; D053447:Channelopathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006706:Homeostasis; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D046912:Multiprotein Complexes / Q000235:genetics / Q000378:metabolism; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D020125:Mutation, Missense; D009200:Myocardial Contraction; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics* / Q000378:metabolism; D021122:Protein Subunits / Q000235:genetics / Q000378:metabolism
chemical_list: D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; D046912:Multiprotein Complexes; D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; D021122:Protein Subunits; C568320:SCN5A protein, human; C091825:syntrophin alpha1
keywords: Arrhythmia; Brugada Syndrome; Long QT syndrome; SCN5A; SIDS; Sodium current
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