Na(V)1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders

Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 mutations that enhance activation produce inherited erythromelalgia (IEM), characterized by burning pain in the extremities; Na(V)1.7 mutations that impair inactivation produce a different, nonoverlapp...

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Udgivet i:J Neurosci
Main Authors: Estacion, M., Dib-Hajj, S. D., Benke, P. J., te Morsche, Rene H. M., Eastman, E. M., Macala, L. J., Drenth, J. P. H., Waxman, S. G.
Format: Artigo
Sprog:Inglês
Udgivet: Society for Neuroscience 2008
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6671384/
https://ncbi.nlm.nih.gov/pubmed/18945915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3443-08.2008
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