Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010).
- Genetic ... Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). - Genetic Heterogeneity of Familial Episodic Pain Syndrome See also FEPS2 (615551), caused by mutation in the SCN10A gene (604427) on chromosome 3p22, and FEPS3 (615552), caused by mutation in the SCN11A gene (604385) on chromosome 3p22.
Kremeyer et al. (2010) reported a large 4-generation family from Colombia, South America, in which 21 individuals had an episodic pain syndrome. The disorder was characterized by onset in infancy of episodic debilitating upper body pain usually triggered ... Kremeyer et al. (2010) reported a large 4-generation family from Colombia, South America, in which 21 individuals had an episodic pain syndrome. The disorder was characterized by onset in infancy of episodic debilitating upper body pain usually triggered by fasting, fatigue, cold, illness, and/or physical exertion. The episodes typically lasted about 1.5 hours, had a prodromal phase during which the episode could sometimes be aborted, and were followed by a period of exhaustion and deep sleep. The episodes of intense pain were accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. However, affected individuals reported no altered pain sensitivity outside the episodes, and neurologic examination was normal. Skin biopsies of affected individuals showed no abnormalities of intraepidermal nerve fibers, and quantitative sensory testing in affected individuals was similar to unaffected individuals. Tests with mustard oil, known to activate TRPA1 receptors, showed that some affected individuals had higher flare responses and secondary hyperalgesia compared to unaffected individuals.
By linkage analysis followed by candidate gene sequencing in a large Colombian family with episodic pain syndrome, Kremeyer et al. (2010) identified a heterozygous missense mutation in the TRPA1 gene (N855S; 604775.0001). The mutation completely segregated with the ... By linkage analysis followed by candidate gene sequencing in a large Colombian family with episodic pain syndrome, Kremeyer et al. (2010) identified a heterozygous missense mutation in the TRPA1 gene (N855S; 604775.0001). The mutation completely segregated with the disorder. In vitro functional expression studies indicated that the mutation resulted in a gain of function of channel activity.