Show Summary Details
Page of

The link between an Nav1.7 mutation and erythromelalgia 

The link between an Nav1.7 mutation and erythromelalgia
Chapter:
The link between an Nav1.7 mutation and erythromelalgia
Author(s):

Bradley J. Kerr

DOI:
10.1093/med/9780198834359.003.0081
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 24 November 2020

The landmark paper discussed in this chapter is ‘Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons’, published by Dib-Hajj et al. in 2005. The voltage-dependent sodium channels Nav1.7, Nav1.8, and Nav1.9 have a restricted pattern of expression in sensory neurons in the periphery and are concentrated in small nociceptive neurons of the dorsal root ganglion, the trigeminal ganglion, and the nodose ganglion. In this paper, Dib-Hajj and colleagues studied a family with erythromelalgia (Weir Mitchell disease), an autosomal-dominant, inherited pain disorder in which burning pain in the extremities can be triggered by warming of the skin or moderate exertion. By identifying a novel mutation in SCN9A, which encodes Nav1.7, they established the critical role of this specific ion channel in this patient population. These findings represent an important first step towards developing isoform-specific channel blockers for the treatment of an inherited chronic pain condition.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.