Channelpedia

PubMed 23266818


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv7.1



Title: Cardiac channelopathies: Genetic and molecular mechanisms.

Authors: Hugues Abriel, Elena V Zaklyazminskaya

Journal, date & volume: Gene, 2012 Dec 22 , ,

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23266818


Abstract
Channelopathies are diseases caused by dysfunctional ion channels, due to either genetic or acquired pathological factors. Inherited cardiac arrhythmic syndromes are among the most studied human disorders involving ion channels. Since seminal observations made in 1995, thousands of mutations have been found in many of the different genes that code for cardiac ion channel subunits and proteins that regulate the cardiac ion channels. The main phenotypes observed in patients carrying these mutations are congenital long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), short QT syndrome (SQTS) and variable types of conduction defects (CD). The goal of this review is to present an update of the main genetic and molecular mechanisms, as well as the associated phenotypes of cardiac channelopathies as of 2012.