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. 2005 Aug;128(Pt 8):1847-54.
doi: 10.1093/brain/awh514. Epub 2005 Jun 15.

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

S D Dib-Hajj  1 , A M Rush, T R Cummins, F M Hisama, S Novella, L Tyrrell, L Marshall, S G Waxman
Affiliations

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

S D Dib-Hajj et al. Brain. 2005 Aug.

Abstract

Erythromelalgia is an autosomal dominant disorder characterized by burning pain in response to warm stimuli or moderate exercise. We describe a novel mutation in a family with erythromelalgia in SCN9A, the gene that encodes the Na(v)1.7 sodium channel. Na(v)1.7 produces threshold currents and is selectively expressed within sensory neurons including nociceptors. We demonstrate that this mutation, which produces a hyperpolarizing shift in activation and a depolarizing shift in steady-state inactivation, lowers thresholds for single action potentials and high frequency firing in dorsal root ganglion neurons. Erythromelalgia is the first inherited pain disorder in which it is possible to link a mutation with an abnormality in ion channel function and with altered firing of pain signalling neurons.

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