Article
[Congenital insensitivity to pain caused by a novel SCN9A-genotype].
Laeknabladid - 1 Jun 2026
Bjornsson Thorsteinn, Olafsson Elias, Katrinardottir Hildigunnur, Sigurdsson Asgeir, Arnadottir Guðny A, Jensson Brynjar, Oddsson Asmundur, Vikingsson Arnor, Bjornsdottir Gyda, Thorgeirsson Thorgeir E, Sulem Patrick, Sveinsson Olafur Arni
Abstract excerpt
Congenital insensitivity to pain (CIP) refers to a group of extremely rare genetic disorders characterized by a lifelong inability to sense pain. Interestingly, in most cases, other neurological functions remain essentially intact. Here, we present the long-term follow-up of a 73 year old Icelandic male who, along with his two brothers, were diagnosed with CIP in childhood. This report details his clinical...
Topics
- Humans
- NAV1.7 Voltage-Gated Sodium Channel
- Male
- Genetic Predisposition to Disease
- Phenotype
- Pain Insensitivity, Congenital
- Mutation
- DNA Mutational Analysis
- Aged
- Heterozygote
- Pedigree