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The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Na(v)1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia

The Na(v)1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-function mutations of this channel have been shown to cause inherited erythromelalgia (IEM) with neuropathic pain. In this study, we report a case of a severe phenotype of IEM caused by p.V1316A mutation...

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Publicat a:PLoS Biol
Autors principals: Huang, Chiung-Wei, Lai, Hsing-Jung, Huang, Po-Yuan, Lee, Ming-Jen, Kuo, Chung-Chin
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5031448/
https://ncbi.nlm.nih.gov/pubmed/27653502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pbio.1002561
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