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Case Reports
. 2009 Dec;34(8):e640-2.
doi: 10.1111/j.1365-2230.2009.03355.x. Epub 2009 Jun 22.

Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel

J Natkunarajah  1 , D Atherton, F Elmslie, S Mansour, P Mortimer
Affiliations
Case Reports

Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel

J Natkunarajah et al. Clin Exp Dermatol. 2009 Dec.

Abstract

Primary erythermalgia (erythromelalgia) is a rare autosomal dominant condition characterized by intermittent attacks of erythema, increased skin temperature and severe burning pain in the extremities, in a bilateral symmetrical distribution. Mutations in the SCN9A gene, which encodes a voltage-gated sodium channel have been shown to cause this disease. We report a family identified to have a mutation in the SCN9A gene, in which one severely affected family member has responded to the therapeutic combination of gabapentin and carbamazepine treatment.

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