Article
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.
Neurology - 10 May 2011
Francis David G, Rybalchenko Volodymyr, Struyk Arie, Cannon Stephen C
Abstract excerpt
BACKGROUND: Hypokalemic periodic paralysis (HypoPP) is associated with mutations in either the Ca(V)1.1 calcium channel or the Na(V)1.4 sodium channel. Some Na(V)1.4 HypoPP mutations have been shown to cause an anomalous inward current that may contribute to the attacks of paralysis. Herein, we test whether disease-associated Na(V)1.4 mutations in previously untested homologous regions of the channel also give...
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