Channelopathy

[1] There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes.

Depending where the mutation occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel.

Because the heartbeat is dependent on the proper movement of ions across the surface membrane, cardiac channelopathies make up a key group of heart diseases.

[10] Historically the difference between the two seemed cut and dried; however, recent research has shown that in some ion transporters, it is not always clear whether it functions as a channel or a pump.

[13] VIDEO Channel Surfing in Pediatrics by Carl E. Stafstrom, M.D., at the UW-Madison Health Sciences Learning Center.