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 ?
Voltage gated potassium channelopathy: An expanding spectrum of clinical phenotypes BMJ Case Reports 2013; 2013: bcr2012007742.
This observation occurred despite the treatments targeting several different proposed disease mechanisms (e.g., hydrops, inflammatory, allergic, vascular, and channelopathy).
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
In addition, both the gain- and loss-of-function have been proposed as the underlying molecular mechanism in this channelopathy resulting in increased excitability (4).
In future, our technologies may also facilitate new treatments for those who suffer from forms of channelopathy.
Interestingly, a British pediatric cohort observed that limb myotonia, strabismus, and respiratory symptoms are common among children with sodium channelopathy. Moreover, scoliosis and/or contractures were demonstrated in 6 of 38 children.[4],[5] In line with these observations, our study highlights that conspicuous limb myotonia, scoliosis, peripheral contractures, and strabismus are nonnegligible features in children with skeletal muscle channelopathies [Supplementary Table 1] [SUPPORTING:1].
This channelopathy results in cardiac autonomic nervous system dysfunction at the onset of ventricular tachycardia (VT), syncope, and/or sudden cardiac arrest in the absence of a structural heart disease and is manifested as right bundle branch block and ST segment elevation in the right precordial leads.
When combining all four major cardiac channelopathy genes (KCNQ1, KCNH2, SCN5A, and RYR2), ultra-rare, nonsynonymous variants were significantly overrepresented in European SIDS cases versus European control subjects (P = 0.013).
The underlying pathophysiology is a channelopathy that involves ionic imbalances between inward and outward currents of the phase 1 of the action potential (5).
Abulhijaa et al., "Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy," Journal of Medical Genetics, vol.
York Platelet Syndrome (YPS) is a calcium channelopathy caused by gain of function in STIM1, a gene which acts as a calcium sensor.