Channelopathy

Channelopathy
Channelopathy
Classification and external resources
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.

Types

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

or
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]

References

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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Look at other dictionaries:

  • channelopathy — noun Any inherited disease caused by a mutation in the genes that code for ion channel subunits or the proteins that regulate them …   Wiktionary

  • channelopathy — chan·nel·op·a·thy (chan″əl opґə the) a disorder of channels …   Medical dictionary

  • ion channelopathy — any of numerous hereditary conditions caused by mutations in genes encoding ion channels, resulting in abnormal function of the channels. Channelopathies are named for the ion channel affected, e.g., sodium channelopathy. Called also ion channel… …   Medical dictionary

  • ion channelopathy — noun Any of several inherited diseases in which alterations in the control of ion conductance through the central pore of ion channels impair cell functions …   Wiktionary

  • Myotonia congenita — Classification and external resources ICD 10 G71.1 ICD 9 359.2 …   Wikipedia

  • Congenital insensitivity to pain — Classification and external resources OMIM 243000 147430 DiseasesDB 31214 …   Wikipedia

  • Erythromelalgia — Classification and external resources Erythromelalgia in a 77 year old woman with longstanding polycythemia vera. ICD 10 I …   Wikipedia

  • Ion channel — Not to be confused with: Ion Television or Ion implantation. Schematic diagram of an ion channel. 1 channel domains (typically four per channel), 2 outer vestibule, 3 selectivity filter, 4 diameter of selectivity filter, 5 phosphorylation site, 6 …   Wikipedia

  • Myasthenia gravis — Classification and external resources Detailed view of a neuromuscular junction: 1. Axon 2. Sarcolemma 3. Synaptic vesicle 4. Nicotinic acetylcholine receptor 5. Mitochondrion …   Wikipedia

  • Neuromyotonia — Classification and external resources ICD 10 G71.1 ICD 9 333.90 …   Wikipedia

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