Definition

Channelopathies are inherited diseases caused by defects in cell proteins called ion channels.

Channelopathies include a wide range of neurologic diseases, including periodic paralysis, congenital myasthenic syndromes, malignant hypothermia, a form of Charcot-Marie-Tooth disease, and several other disorders. Cystic fibrosis and long Q-T syndrome, which are not neurological diseases, are also types of channelopathy.

Description

Cells of the body, including nerve and muscle cells, are surrounded by thin coverings called membranes. Embedded in these membranes are a large and varied set of proteins that control the movement of materials across the membrane, in and out of the cell. One major type of material that crosses through such proteins are called ions, and the proteins that transport them are called ion...