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. Clinical and experimental dermatology [Clin Exp Dermatol] Journal article | | Title | 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. | | Author(s) | Natkunarajah J, Atherton D, Elmslie F, Mansour S, Mortimer P | | Institution | Department of Dermatology, St George's Hospital, London, UK. | | Source | Clin Exp Dermatol 2009 Jun 17. | | Abstract | Summary 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. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 19549232 |
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