ion channel disease

ion channel disease

A group of diseases marked clinically by muscular weakness, absent muscle tone, or episodic muscular paralysis. The diseases are caused by congenital defects in the cell membrane proteins that move ions into and out of the cell. These defects alter the cells' resting potential, action potential, or both, and make them “fire” ineffectively.
Mentioned in ?
References in periodicals archive ?
a leading developer and user of genetic information to help guide medical therapy, said its DNA test, FAMILION(TM), is on its way to becoming a key tool to help physicians save the lives of people who are genetically predisposed to potentially fatal cardiac arrhythmias caused by Long QT Syndrome (LQTS), Brugada Syndrome and related cardiac ion channel diseases or channelopathies.