Gating pore current in an inherited ion channelopathy
Stanislav Sokolov,
Todd Scheuer and
William A. Catterall ()
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Stanislav Sokolov: University of Washington, Seattle, Washington 98195-7280, USA
Todd Scheuer: University of Washington, Seattle, Washington 98195-7280, USA
William A. Catterall: University of Washington, Seattle, Washington 98195-7280, USA
Nature, 2007, vol. 446, issue 7131, 76-78
Abstract:
Channel crossings Inherited defects in sodium transport channels cause a number of dominantly inherited 'ion channelopathies', including periodic paralysis, cardiac arrhythmia, epilepsy and chronic pain. The molecular mechanisms behind some other channelopathies are unknown, however. A possible explanation has now been found for one of these, hypokalaemic periodic paralysis. Based on studies in Xenopus eggs, it appears that mutations in gating pore currents, which serve a voltage sensing function, are involved in the pathology and genetics of the disease. A scan of known mutations in other ion channelopathies reveals other defects that might alter gating pore current, so this mechanism may well be a significant contributor to disease.
Date: 2007
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Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:446:y:2007:i:7131:d:10.1038_nature05598
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DOI: 10.1038/nature05598
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