期刊
PAIN
卷 143, 期 1-2, 页码 155-158出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.pain.2009.02.016
关键词
SCN9A; Channelopathy-associated insensitivity to pain; Congenital indifference to pain; NaV1.7; Olfaction; Indifference to pain; CIP
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. (C) 2009 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.
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