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

✍ Scribed by Shorer, Zamir; Wajsbrot, Einav; Liran, Tamir-Hostovsky; Levy, Jacov; Parvari, Ruti


Book ID
122111645
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
659 KB
Volume
50
Category
Article
ISSN
0887-8994

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Congenital insensitivity to pain: novel
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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