Two novel SCN9A mutations causing insensitivity to pain

KB Nilsen, AK Nicholas, CG Woods, SI Mellgren… - Pain, 2009 - Elsevier
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 …