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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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Detalles Bibliográficos
Autores principales: Huang, Chiung-Wei, Lai, Hsing-Jung, Huang, Po-Yuan, Lee, Ming-Jen, Kuo, Chung-Chin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031448/
https://www.ncbi.nlm.nih.gov/pubmed/27653502
http://dx.doi.org/10.1371/journal.pbio.1002561