Article
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
Annals of neurology - 1 Mar 2006
Han Chongyang, Rush Anthony M, Dib-Hajj Sulayman D, Li Song, Xu Zhe, Wang Yun, Tyrrell Lynda, Wang Xiaoliang, Yang Yong, Waxman Stephen G
Abstract excerpt
OBJECTIVE: Inherited erythermalgia (erythromelalgia) is an autosomal dominant disorder in which patients experience severe burning pain in the extremities, in response to mild thermal stimuli and exercise. Although mutations in sodium channel Na(v)1.7 have been shown to underlie erythermalgia in several multigeneration families with the disease that have been investigated to date, the molecular basis of...
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