Article
Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Sept 2014
Huang Jianying, Yang Yang, Dib-Hajj Sulayman D, van Es Michael, Zhao Peng, Salomon Jody, Drenth Joost P H, Waxman Stephen G
Abstract excerpt
Sodium channel Nav1.7, encoded by SCN9A, is expressed in DRG neurons and regulates their excitability. Genetic and functional studies have established a critical contribution of Nav1.7 to human pain disorders. We have now characterized a novel Nav1.7 mutation (R1279P) from a female human subject with distal limb pain, in which depolarized fast inactivation overrides impaired activation to produce...
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