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Pain. 2009 May;143(1-2):155-8. doi: 10.1016/j.pain.2009.02.016. Epub 2009 Mar 21.

Two novel SCN9A mutations causing insensitivity to pain.

Author information

  • 1Department of Neuroscience, Norwegian University of Science and Technology, Edvard Griegs gate 8, 7489 Trondheim, Norway. kristian.b.nilsen@ntnu.no

Erratum in

  • Pain. 2009 Sep;145(1-2):264.

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.

PMID:
19304393
[PubMed - indexed for MEDLINE]
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