Channelopathy

From Wikipedia, the free encyclopedia

The channelopathies are diseases caused by a mutation or mutations in genes coding for ion channel subunits or proteins that regulate them.

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.

[edit] 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
• Myotonia congenita
• Nonsyndromic deafness
• Paramyotonia congenita
• Periodic paralysis
• Retinitis pigmentosa
• Romano-Ward syndrome
• Short QT syndrome
• Timothy syndrome

[edit] References

• Kass RS (2005). "The channelopathies: novel insights into molecular and genetic mechanisms of human disease". Journal of Clinical Investigation 115 (8): 1986-9. PMID 16075038.