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- W2023131602 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." @default.
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- W2023131602 date "2009-05-01" @default.
- W2023131602 modified "2023-10-13" @default.
- W2023131602 title "Two novel SCN9A mutations causing insensitivity to pain" @default.
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- W2023131602 doi "https://doi.org/10.1016/j.pain.2009.02.016" @default.
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