Channelopathy
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2008-05-27T18:01:56Z
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'''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]]).
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 (horse)|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==
* {{cite journal
| author = [[Robert S. Kass]]
| title=The channelopathies: novel insights into molecular and genetic mechanisms of human disease
| journal = [[Journal of Clinical Investigation]]
| volume=115
| issue=8
| year=2005
| pages=1986–1989
| url = http://www.jci.org/cgi/content/full/115/8/1986
| pmid=16075038
| doi=10.1172/JCI26011
}}
==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.
[[Category:Channelopathy|*]]
[[Category:Genetic disorders]]
{{Genetic-disorder-stub}}
[[fr:Canalopathie]]
==External Links==
VIDEO [http://videos.med.wisc.edu/videoInfo.php?videoid=303 Channel Surfing in Pediatrics] by Carl E. Stafstrom, M.D., at the UW-Madison Health Sciences Learning Center.
*[http://www.cff.org Cystic Fibrosis Foundation]
*[http://rarediseasesnetwork.epi.usf.edu/gdmcc/learnmore/index.htm#cf Rare Diseases Clinical Research Network]