A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

doi:10.1002/ana.21678

Article

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

Annals of neurology - 1 Jun 2009

Fischer Tanya Z, Gilmore Elaine S, Estacion Mark, Eastman Emmanuella, Taylor Sean, Melanson Michel, Dib-Hajj Sulayman D, Waxman Stephen G

Abstract excerpt

OBJECTIVE: Human and animal studies have shown that Na(v)1.7 sodium channels, which are preferentially expressed within nociceptors and sympathetic neurons, play a major role in inflammatory and neuropathic pain. Inherited erythromelalgia (IEM) has been linked to gain-of-function mutations of Na(...

Topics

Adult
Anticonvulsants
Carbamazepine
Cell Line
Erythromelalgia
Female
Humans
Male
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Pedigree
Sodium Channels

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