Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7

• Main Authors: Wen He (Author), Gareth T. Young (Author), Baohong Zhang (Author), Peter J. Cox (Author), Lily Ting-Yin Cho (Author), Sally John (Author), Sara A. Paciga (Author), Linda S. Wood (Author), Nicolas Danziger (Author), Serena Scollen (Author), Ciara Vangjeli (Author)
• Format: Book
• Published: BMC, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Nav1.7, have previously been reported in subjects wit...