Article
A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.
Annals of neurology - 1 Dec 2009
Estacion Mark, Harty T Patrick, Choi Jin-Sung, Tyrrell Lynda, Dib-Hajj Sulayman D, Waxman Stephen G
Abstract excerpt
Sodium channel Na(V)1.7, encoded by the SCN9A gene, is preferentially expressed in nociceptive primary sensory neurons, where it amplifies small depolarizations. In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this...
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