Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations

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...

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Autori principali: Cox, James J, Sheynin, Jony, Shorer, Zamir, Reimann, Frank, Nicholas, Adeline K, Zubovic, Lorena, Baralle, Marco, Wraige, Elizabeth, Manor, Esther, Levy, Jacov, Woods, C Geoffery, Parvari, Ruti
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Subscription Services, Inc., A Wiley Company 2010
Soggetti:
Mutation in Brief
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2966863/
https://ncbi.nlm.nih.gov/pubmed/20635406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21325
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