Familial episodic pain syndrome

Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue, fasting, and cold. Gain-of-function mutations in TRPA1, SCN10A, and SCN11A can be causative of FEPS.

Musculoskeletal disease

(FEPS1) TRPA1 [HSA:8989] [KO:K04984]
(FEPS2) SCN10A [HSA:6336] [KO:K04842]
(FEPS3) SCN11A [HSA:11280] [KO:K04843]

PMID:20547126

Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramirez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.

Neuron 66:671-80 (2010)
DOI:10.1016/j.neuron.2010.04.030

PMID:23115331

Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG

Gain-of-function Nav1.8 mutations in painful neuropathy.

Proc Natl Acad Sci U S A 109:19444-9 (2012)
DOI:10.1073/pnas.1216080109

PMID:24207120

Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY

Gain-of-function mutations in SCN11A cause familial episodic pain.

Am J Hum Genet 93:957-66 (2013)
DOI:10.1016/j.ajhg.2013.09.016