channelopathy


Also found in: Wikipedia.

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 ?
Miserez, founder and CEO of Diagene, said, "We are pleased to enter into this agreement with Clinical Data to exclusively provide their cardiac channelopathy test to customers in three significant markets in Europe.
Lab21 to Offer CLDA's Genetic Test for Cardiac Channelopathy II-49
Launched a new FAMILION([R]) test for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) mutations, an inherited and highly lethal cardiac channelopathy.
Berwyn Clarke, CSO of Lab21, said, "We are delighted to have the opportunity to exclusively provide PGxHealth's cardiac channelopathy test to customers in Ireland and the U.
BRS is a familial disease that displays an autosomal dominant mode of transmission and has been linked to mutations in SCN5A, a gene located on chromosome 3 encoding the [alpha]-subunit of the sodium channel that leads to sodium channelopathy and causes a reduction in the density of the fast sodium current.
Hypertrophic cardiomyopathy, dilated cardiomyopathy, Marfan syndrome, arrhythmia, channelopathy
Ion channelopathy and hyperphosphorylation contributing to cardiac arrhythmias.
Assistant Professor, Biological Sciences, Carnegie Mellon University, and member of the Center for the Neural Basis of Cognition, a partnership of Carnegie Mellon and the University of Pittsburgh, was awarded a Milken grant for research on the development of a new therapy with the potential to reverse an acquired channelopathy that increases neuronal excitability and the risk of a chronic seizure disorder following a first seizure.
A retrospective analysis of Brugada Syndrome (BrS), a common heritable channelopathy, involving an international consortium of databases from 9 genetic testing centers, adds 200 new BrS-associated mutations to the public domain.
The diagnosis of a cardiac channelopathy by an electrocardiogram (ECG) is often difficult and may be missed, which leaves a patient at risk of a sudden cardiac death.
When a cardiac channelopathy or cardiomyopathy has been diagnosed, the test can help doctors and patients make more informed treatment decisions and aid in uncovering other family members that may be at risk, even if asymptomatic.
Serum NMO-immunoglobulin G is a specific autoantibody marker for NMO, targeting the water channel aquaporin-4 and is found in 70% of cases, suggesting that NMO may be a novel autoimmune channelopathy.