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MeSH D053447

Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.[1] These diseases may be either congenital (often resulting from a mutation or mutations in the encoding genes) or acquired[2] (often resulting from autoimmune attack on an ion channel).

There are a large number of distinct dysfunctions known to be caused by ion channel mutations. The genes for the construction of ion channels are highly conserved amongst mammals and one condition, hyperkalemic periodic paralysis, was first identified in the descendants of Impressive, a registered Quarter Horse (see AQHA website).

The channelopathies of human skeletal muscle include hyper-, hypo- and normokalemic (high, low and normal potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita.


Condition Channel type
Alternating hemiplegia of childhood Na⁺/K⁺-ATPase
Bartter syndrome various by type
Brugada syndrome various, by type
Congenital hyperinsulinism Inward-rectifier potassium ion channel
Cystic fibrosis Chloride channel
Dravet Syndrome Voltage-gated sodium channel
Episodic Ataxia Voltage-gated potassium channel
Erythromelalgia Voltage-gated sodium channel
Generalized epilepsy with febrile seizures plus Voltage-gated sodium channel
Familial hemiplegic migraine various
Hyperkalemic periodic paralysis Voltage-gated sodium channel
Hypokalemic periodic paralysis Voltage-gated sodium channel

voltage-dependent calcium channel (calciumopathy)

Long QT syndrome

main type Romano-Ward syndrome

various, by type
Malignant hyperthermia Ligand-gated calcium channel
Mucolipidosis type IV Non-selective cation channel
Myasthenia Gravis Ligand-gated sodium channel
Myotonia congenita Voltage-dependent chloride channel
Neuromyotonia Voltage-gated potassium channel
Nonsyndromic deafness various
Paramyotonia congenita
(a periodic paralysis)
Voltage-gated sodium channel
Retinitis pigmentosa
(some forms)
Ligand-gated non-specific ion channels
Short QT syndrome various potassium channels suspected
Timothy syndrome Voltage-dependent calcium channel
Seizure Voltage-dependent potassium channel[3][4]

See also


  1. Robert S. Kass (2005). The channelopathies: novel insights into molecular and genetic mechanisms of human disease. Journal of Clinical Investigation 115 (8): 1986–9.
  2. Sid Gilman (2007). Neurobiology of disease, 319–, Academic Press. URL accessed 22 November 2010.
  3. Hunter JV, Moss AJ (January 2009). Seizures and arrhythmias: Differing phenotypes of a common channelopathy?. Neurology 72 (3): 208–9.
  4. Mulley JC, Scheffer IE, Petrou S, Berkovic SF (April 2003). Channelopathies as a genetic cause of epilepsy. Current Opinion in Neurology 16 (2): 171–6.

External links

VIDEO Channel Surfing in Pediatrics by Carl E. Stafstrom, M.D., at the UW-Madison Health Sciences Learning Center.


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