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HERG1 channelopathies Sanguinetti MCPflugers Arch 2010[Jul]; 460 (2): 265-76Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. Mutations in KCNH2 (the gene that encodes hERG1) causes LQT2, one of the most common forms of long QT syndrome, a disorder of cardiac repolarization that predisposes affected subjects to ventricular arrhythmia and increases the risk of sudden cardiac death. Hundreds of LQT2-associated mutations have been described, and most cause a loss of function by disrupting subunit folding, assembly, or trafficking of the channel to the cell surface. Loss-of-function mutations in hERG1 channels have also recently been implicated in epilepsy. A single gain-of-function mutation has been described that causes short QT syndrome and cardiac arrhythmia. In addition, up-regulation of hERG1 channel expression has been demonstrated in specific tumors and has been associated with skeletal muscle atrophy in mice.|Animals[MESH]|Channelopathies/*genetics[MESH]|ERG1 Potassium Channel[MESH]|Epilepsy/genetics[MESH]|Ether-A-Go-Go Potassium Channels/chemistry/*genetics/physiology[MESH]|Humans[MESH]|Long QT Syndrome/genetics/physiopathology[MESH]|Muscular Atrophy/genetics[MESH]|Up-Regulation[MESH] |