Referenced in: none

Automatically associated channels: Nav1.7

Title: [From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene]

Authors: J P H Drenth, R H M te Morsche, J J Michiels

Journal, date & volume: , 2006 Jan 28 , 150, 194-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16471234

Abstract
Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.