Referenced in: none

Automatically associated channels: Nav1.7

Title: Two novel SCN9A mutations causing insensitivity to pain.

Authors: K B Nilsen, A K Nicholas, C G Woods, S I Mellgren, M Nebuchennykh, J Aasly

Journal, date & volume: Pain, 2009 May , 143, 155-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19304393

Abstract
The sensation of pain is important and there may be serious consequences if it is missing. Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition. Different mutations in the SCN9A gene causing loss of function of the voltage-gated sodium channel Nav1.7 have been reported in patients with this rare disease. Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. We also discuss the finding of anosmia which apparently is a common feature in these patients.