Article
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.
European journal of neurology - 1 Aug 2020
Zhao F, Mao B, Geng X, Ren X, Wang Y, Guan Y, Li S, Li L, Zhang S, You Y, Cao Y, Yang T, Zhao X
Abstract excerpt
BACKGROUND AND PURPOSE: Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here, 21 affected Chinese families are reported, including 19 with congenital insensitivity to pain with anhidrosis (CIPA; namely HSAN IV) and two with congenital insensitivity to pain (CIP; namely HSAN IID) caused by...
Topics
- China
- HEK293 Cells
- Hereditary Sensory and Autonomic Neuropathies
- Humans
- Hypohidrosis
- Molecular Biology
- Mutation
- NAV1.7 Voltage-Gated Sodium Channel
- Pain Insensitivity, Congenital
- Receptor, trkA