Channelopathy 2390443 215319749 2008-05-27T18:01:56Z DOI bot 6652755 Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]]. '''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]