channelopathy


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channelopathy

A 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.
 
Examples
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.

channelopathy

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).
References in periodicals archive ?
Interestingly, a British pediatric cohort observed that limb myotonia, strabismus, and respiratory symptoms are common among children with sodium channelopathy.
We are also intrigued by recent data from independent researchers at NYU and Mount Sinai that implicate TRPA1 ion channelopathy in cramp fasciculation syndrome, said Flex Pharma R&D President Bill McVicar, Ph.
18) In cases of superimposed hereditary or genetic channelopathy variants, such as HPP (hyperkalemic periodic paralysis) where deficient potassium channels are dysfunctional and potassium levels rise.
Congenital myotonia is a genetic channelopathy that affects skeletal muscles.
There are two hypotheses: cerebellar and intracortical dysfunction could result from a channelopathy (migraine comorbidity supported this theory) or decreased cortical inhibition may be caused by dysfunction of the cerebello-thalamo-cortical loop as a result of primary cerebellar pathology (12).
An SCN9A Channelopathy Causes Congenital Inability to Experience Pain," Nature 444 (December 14, 2006): 894-98.
Brugada, "Commentary on the Brugada ECG pattern: a marker of channelopathy, structural heart disease, or neither?
It is an inherited form of ions channelopathy resulting in prolonged cardiac repolarization and abnormal prolongation of QT interval on electrocardiogram (ECG).
HPP is an autosomal dominant channelopathy, exacerbated by strenuous exercise, a high carbohydrate diet, cold, excitement, and specific drugs such as beta agonists, corticosteroids, and insulin.
6 mutation results in a thyroid hormone-sensitive channelopathy involving the sodium-potassium-adenosine triphosphate ([Na.
First described in 1992, Brugada syndrome is a primary cardiac electrical disease or channelopathy that is accompanied a structurally normal heart and carries an association with sudden cardiac death (1).