ion channelopathy

ion channelopathy
Any of several inherited diseases in which alterations in the control of ion conductance through the central pore of ion channels impair cell functions

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  • ion channelopathy — any of numerous hereditary conditions caused by mutations in genes encoding ion channels, resulting in abnormal function of the channels. Channelopathies are named for the ion channel affected, e.g., sodium channelopathy. Called also ion channel… …   Medical dictionary

  • Channelopathy — Classification and external resources MeSH D053447 Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.[1] These diseases may …   Wikipedia

  • Ion channel — Not to be confused with: Ion Television or Ion implantation. Schematic diagram of an ion channel. 1 channel domains (typically four per channel), 2 outer vestibule, 3 selectivity filter, 4 diameter of selectivity filter, 5 phosphorylation site, 6 …   Wikipedia

  • channelopathy — noun Any inherited disease caused by a mutation in the genes that code for ion channel subunits or the proteins that regulate them …   Wiktionary

  • Long QT syndrome — An inherited defect in the heart s rhythm. In the U.S. it is estimated that 4,000 American children and young adults die yearly of the long QT syndrome. It is a common cause of sudden death among school athletes, as well as the cause of many… …   Medical dictionary

  • Brugada syndrome — a type of ion channelopathy characterized by sudden, idiopathic ventricular fibrillation in an apparently healthy person, often resulting in death (sudden adult or sudden arrhythmia death syndrome). It is autosomal dominant and occurs most often… …   Medical dictionary

  • Myotonia congenita — Classification and external resources ICD 10 G71.1 ICD 9 359.2 …   Wikipedia

  • Channelomics — is a newly emerging term for the study of membrane channels, that is; ion channels and porins (the channelome ). It is therefore a branch of physiology, biophysics and pharmacology. The term is not used widely and it is therefore perhaps… …   Wikipedia

  • Erythromelalgia — Classification and external resources Erythromelalgia in a 77 year old woman with longstanding polycythemia vera. ICD 10 I …   Wikipedia

  • Cystic fibrosis — Classification and external resources A breathing treatment for cystic fibrosis, using a mask nebuliser and a ThAIRapy Vest ICD 10 E …   Wikipedia

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