• K B Nilsen, A K Nicholas, C G Woods, S I Mellgren, M Nebuchennykh, and J Aasly.
• Department of Neuroscience, Norwegian University of Science and Technology, Edvard Griegs gate 8, 7489 Trondheim, Norway. kristian.b.nilsen@ntnu.no
• Pain. 2009 May 1; 143 (1-2): 155-8.

AbstractThe 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.

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