channelopathies

Genetic disorders of ion channels and their modifiers are known as channelopathies.

Article: Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Certain forms are considered channelopathies.

Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.

However, a coroner's inquest in April 2009 determined that Perkins had suffered from an undiagnosed case of channelopathies, which caused his heart to stop suddenly.

Some of the patients in the study were also with Angelman syndrome, sodium channelopathies or forms of Rett syndrome.

"Ion Channels and Disease: Channelopathies" published in 1999 (Academic Press Inc.)

Much like the channelopathies in voltage-gated ion channels, several ligand-gated ion channels have been linked to some types of frontal and generalized epilepsies.

The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita.

Consortium for Clinical Investigation of Neurologic Channelopathies entry on Andersen-Tawil Syndrome (ATS)

- Nervous System Channelopathies Pathogenesis and Treatment, Principal Investigator: Dr. Robert C. Griggs (University of Rochester, Rochester, NY)

Both clinical disorders stem from ion channel dysfunction (so-called channelopathies) that can lead to the risk of potentially fatal cardiac arrhythmias (e.g., torsades de pointes), due to repolarization disturbances of the cardiac action potential.