Article
Gating pore current in an inherited ion channelopathy.
Nature - 1 Mar 2007
Sokolov Stanislav, Scheuer Todd, Catterall William A
Abstract excerpt
Ion channelopathies are inherited diseases in which alterations in control of ion conductance through the central pore of ion channels impair cell function, leading to periodic paralysis, cardiac arrhythmia, renal failure, epilepsy, migraine and ataxia. Here we show that, in contrast with this well-established paradigm, three mutations in gating-charge-carrying arginine residues in an S4 segment that cause...
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