Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery, despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (DHPR) voltage sensor. In five HypoPP families without DHPR gene defects, we identified two mutations, Arg-672→His and →Gl...

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Autori principali: Jurkat-Rott, Karin, Mitrovic, Nenad, Hang, Chao, Kouzmenkine, Alexei, Iaizzo, Paul, Herzog, Jürgen, Lerche, Holger, Nicole, Sophie, Vale-Santos, Jose, Chauveau, Dominique, Fontaine, Bertrand, Lehmann-Horn, Frank
Natura: Artigo
Lingua:Inglês
Pubblicazione: The National Academy of Sciences 2000
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC16902/
https://ncbi.nlm.nih.gov/pubmed/10944223
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