Article
Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7.
Pain - 1 Sept 2015
Namer Barbara, Ørstavik Kristin, Schmidt Roland, Kleggetveit Inge-Petter, Weidner Christian, Mørk Cato, Kvernebo Mari Skylstad, Kvernebo Knut, Salter Hugh, Carr Thomas Hedley, Segerdahl Märta, Quiding Hans, Waxman Stephen George, Handwerker Hermann Otto, Torebjörk Hans Erik, Jørum Ellen, Schmelz Martin
Abstract excerpt
Seven patients diagnosed with erythromelalgia (EM) were investigated by microneurography to record from unmyelinated nerve fibers in the peroneal nerve. Two patients had characterized variants of sodium channel Nav1.7 (I848T, I228M), whereas no mutations of coding regions of Navs were found in 5 patients with EM. Irrespective of Nav1.7 mutations, more than 50% of the silent nociceptors in the patients with EM...
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