title: Two novel SCN9A mutations causing insensitivity to pain.
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.
authors.affiliation: Department of Neuroscience, Norwegian University of Science and Technology, Edvard Griegs gate 8, 7489 Trondheim, Norway. kristian.b.nilsen@ntnu.no
authors.forename: K B
authors.initials: KB
authors.lastname: Nilsen
authors.forename: A K
authors.initials: AK
authors.lastname: Nicholas
authors.forename: C G
authors.initials: CG
authors.lastname: Woods
authors.forename: S I
authors.initials: SI
authors.lastname: Mellgren
authors.forename: M
authors.initials: M
authors.lastname: Nebuchennykh
authors.forename: J
authors.initials: J
authors.lastname: Aasly
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D006987:Hypesthesia / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel; D010146:Pain / Q000235:genetics*; D017288:Pain Threshold; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels