Genetic Control of Potassium Channels.
Approximately 80 genes in the human genome code for pore-forming subunits of potassium (K(+)) channels. Rare variants (mutations) in K(+) channel-encoding genes may cause heritable arrhythmia syndromes. Not all rare variants in K(+) channel-encoding genes are necessarily disease-causing mutations. Common variants in K(+) channel-encoding genes are increasingly recognized as modifiers of phenotype in heritable arrhythmia syndromes and in the general population. Although difficult, distinguishing pathogenic variants from benign variants is of utmost importance to avoid false designations of genetic variants as disease-causing mutations.
Department of Clinical and Experimental Cardiology, Heart Centre, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.
Ahmad S
AS
Amin
Department of Clinical and Experimental Cardiology, Heart Centre, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; King Abdulaziz University, Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, PO Box 80200, Jeddah 21589, Kingdom of Saudi Arabia. Electronic address: a.a.wilde@amc.uva.nl.
Arthur A M
AA
Wilde
D001145:Arrhythmias, Cardiac / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D015221:Potassium Channels / Q000235:genetics*
D015221:Potassium Channels
Atrial fibrillation; Brugada syndrome; Cardiac potassium channel; Gene; Long QT syndrome; Short QT syndrome; Ventricular fibrillation