Journal
NEUROLOGY
Volume 76, Issue 19, Pages 1635-1641Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e318219fb57
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Funding
- NIH/NIAMS [AR42703]
- Merck Co., Inc.
- Johnson Johnson
- Muscular Dystrophy Association
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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 rise to the anomalous current. Methods: The functional properties of mutant Na(V)1.4 channels were studied with voltage-clamp techniques in an oocyte expression system. Results: The HypoPP mutation Na(V)1.4-R1132Q onducts an anomalous gating pore current, but the homologous R1448C mutation in paramyotonia congenita does not. Conclusions: Gating pore currents arising from missense mutations at arginine residues in the voltage sensor domains of Na V 1.4 are a common feature of HypoPP mutant channels and contribute to the attacks of paralysis. Neurology (R) 2011; 76: 1635-1641
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