channelopathy(redirected from Chanellopathy)
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channelopathyA popular term for a heterogeneous group of conditions caused by structural (due to mutations) or functional (acquired, e.g., autoimmune) defects in ion channels or their regulatory proteins.
Cystic fibrosis, Dent’s disease, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, myasthenia gravis, hyperkalemic, hypokalemic and normokalemic periodic paralysis, congenital myotonia.
A disease that results from a mutation in an ion channel in a cell membrane (e.g., from a mutation that alters the uptake of an electrolyte such as sodium, potassium, or calcium by a cell).