Article
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.
Experimental neurology - 1 Apr 2009
Choi Jin-Sung, Zhang Lili, Dib-Hajj Sulayman D, Han Chongyang, Tyrrell Lynda, Lin Zhimiao, Wang Xiaoliang, Yang Yong, Waxman Stephen G
Abstract excerpt
Inherited erythromelalgia (IEM), characterized by episodic burning pain and erythema of the extremities, is produced by gain-of-function mutations in sodium channel Na(v)1.7, which is preferentially expressed in nociceptive and sympathetic neurons. Most patients do not respond to pharmacotherapy, although occasional reports document patients as showing partial relief with lidocaine or mexiletine. A 7-year-old...
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