title: Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.
abstract: Since 1995, when a potassium channel gene, hERG (human ether-à-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed rectifier potassium channels was identified as being responsible for type 2 congenital long-QT syndrome, a number of potassium channel genes have been shown to cause different types of inherited cardiac arrhythmia syndromes. These include congenital long-QT syndrome, short-QT syndrome, Brugada syndrome, early repolarization syndrome, and familial atrial fibrillation. Genotype-phenotype correlations have been investigated in some inherited arrhythmia syndromes, and as a result, gene-specific risk stratification and gene-specific therapy and management have become available, particularly for patients with congenital long-QT syndrome. In this review article, the molecular structure and function of potassium channels, the clinical phenotype due to potassium channel gene mutations, including genotype-phenotype correlations, and the diverse mechanisms underlying the potassium channel gene-related diseases will be discussed.
authors.affiliation: Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565 Japan. wshimizu@hsp.ncvc.go.jp
authors.forename: Wataru
authors.initials: W
authors.lastname: Shimizu
authors.forename: Minoru
authors.initials: M
authors.lastname: Horie
mesh_terms: D000200:Action Potentials; D000818:Animals; D001281:Atrial Fibrillation / Q000235:genetics; D053840:Brugada Syndrome / Q000235:genetics; D056726:Genetic Association Studies; D006321:Heart / Q000502:physiology; D006331:Heart Diseases / Q000235:genetics*; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D021122:Protein Subunits
chemical_list: D015221:Potassium Channels; D021122:Protein Subunits