Channelopathy


Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These diseases may be either congenital or acquired.
There are many 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.
The channelopathies of human skeletal muscle include hyper- and hypokalemic periodic paralysis, myotonia congenita and paramyotonia congenita.
Channelopathies affecting synaptic function are a type of synaptopathy.

Types

The types in the following table are commonly accepted. Channelopathies currently under research, like Kir4.1 potassium channel in multiple sclerosis, are not included.
ConditionChannel type
Alternating hemiplegia of childhoodNa⁺/K⁺-ATPase
Bartter syndromevarious by type
Brugada syndromevarious, by type
Catecholaminergic polymorphic ventricular tachycardia Ryanodine receptor
Congenital hyperinsulinismInward-rectifier potassium ion channel
Cystic fibrosisChloride channel
Dravet SyndromeVoltage-gated sodium channel
Episodic AtaxiaVoltage-gated potassium channel
ErythromelalgiaVoltage-gated sodium channel
Generalized epilepsy with febrile seizures plusVoltage-gated sodium channel
Familial hemiplegic migrainevarious
Associated with one particular disabling form of FibromyalgiaVoltage-gated sodium channel
Hyperkalemic periodic paralysisVoltage-gated sodium channel
Hypokalemic periodic paralysisVoltage-gated sodium channel

or

voltage-dependent calcium channel
Lambert-Eaton myasthenic syndromeVoltage-gated calcium channel
Long QT syndrome

main type Romano-Ward syndrome
various, by type
Malignant hyperthermiaLigand-gated calcium channel
Mucolipidosis type IVNon-selective cation channel
Myotonia congenitaVoltage-dependent chloride channel
Neuromyelitis opticaAquaporin-4 water channel
NeuromyotoniaVoltage-gated potassium channel
Nonsyndromic deafnessvarious
Paramyotonia congenita

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