Journal Article

Gain-of-function mutation in Na<sub>v</sub>1.7 in familial erythromelalgia induces bursting of sensory neurons

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

in Brain

Published on behalf of The Guarantors of Brain

Volume 128, issue 8, pages 1847-1854
Published in print August 2005 | ISSN: 0006-8950
Published online June 2005 | e-ISSN: 1460-2156 | DOI: http://dx.doi.org/10.1093/brain/awh514
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

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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 Nav1.7 sodium channel. Nav1.7 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.

Keywords: channel; channelopathy; erythromelalgia; mutation; pain; sodium; DRG = dorsal root ganglion

Journal Article.  4625 words.  Illustrated.

Subjects: Neurology ; Neuroscience

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