Channelopathy

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

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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 pedigree race horse.

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

• Alternating hemiplegia of childhood
• Bartter syndrome
• Brugada syndrome
• Congenital hyperinsulinism
• Cystic fibrosis
• Episodic Ataxia
• Erythromelalgia
• Generalized epilepsy with febrile seizures plus
• Hyperkalemic periodic paralysis
• Hypokalemic periodic paralysis
• Long QT syndrome
• Malignant hyperthermia
• Migraine
• Myasthenia Gravis
• Myotonia congenita
• Neuromyotonia
• Nonsyndromic deafness
• Paramyotonia congenita
• Periodic paralysis
• Retinitis pigmentosa
• Romano-Ward syndrome
• Short QT syndrome
• Timothy syndrome

References

• Robert S. Kass (2005). "The channelopathies: novel insights into molecular and genetic mechanisms of human disease". Journal of Clinical Investigation 115 (8): 1986–1989. PMID 16075038.

Further reading

• Ashcroft F.M., Ion Channels and Disease. 2000. Academic Press.

• Hart IK, Waters C, Vincent A, Newland C, Beeson D, Pongs O, Morris C & NewsomDavis J. 1997. Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Annals OF Neurology 41(2):238-246 .

• Lehmann-Horn,F. & Jurkatt-Rott,K. 1999. Voltage-Gated Ion Channels and Hereditary Disease. PHYSIOLOGICAL REVIEWS 79(4).

• Newsom-Davis J, 1997. Autoantibody-mediated channelopathies at the neuromuscular junction Neuroscientist 3(5):337-346.