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A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

✍ Scribed by Mansouri, Maria; Chafai Elalaoui, Siham; Ouled Amar Bencheikh, Bouchra; El Alloussi, Mohamed; Dion, Patrick A.; Sefiani, Abdelaziz; Rouleau, Guy A.


Book ID
126758981
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
424 KB
Volume
51
Category
Article
ISSN
0887-8994

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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