Article
Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.
Molecular pain - 1 Jan 2000
Sun Jiaoli, Li Lulu, Yang Luyao, Duan Guangyou, Ma Tingbin, Li Ningbo, Liu Yi, Yao Jing, Liu Jing Yu, Zhang Xianwei
Abstract excerpt
Congenital insensitivity to pain (OMIM 243000) is an extremely rare disorder caused by loss-of-function mutations in SCN9A encoding Nav1.7. Although the SCN9A mutations and phenotypes of painlessness and anosmia/hyposmia in patients are previously well documented, the complex relationship between...
Topics
- Base Sequence
- Biophysical Phenomena
- Child, Preschool
- Electrophysiological Phenomena
- Female
- Genetic Predisposition to Disease
- HEK293 Cells
- Heterozygote
- Humans
- Male
- Mutant Proteins
- Mutation, Missense
- NAV1.7 Voltage-Gated Sodium Channel