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Channelopathy: a novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation

✍ Scribed by Bartholomew, F.; Lazar, J.; Marqueling, A.; Lee-Messer, C.; Jaradeh, S.; Teng, J. M. C.


Book ID
121850723
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
319 KB
Volume
171
Category
Article
ISSN
0007-0963

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SCN9A encodes the voltage-gated sodium channel Na v 1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause s