Entry |
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Name |
Familial episodic pain syndrome |
Description |
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.
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Category |
Musculoskeletal disease
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Brite |
Human diseases [BR:br08402]
Musculoskeletal diseases
Other musculoskeletal diseases
H01391 Familial episodic pain syndrome
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Other disorders of the nervous system
8E43 Pain disorders
H01391 Familial episodic pain syndrome
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Pathway |
hsa04750 | Inflammatory mediator regulation of TRP channels |
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Gene |
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Other DBs |
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Reference |
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Authors |
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 |
Title |
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. |
Journal |
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Reference |
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Authors |
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 |
Title |
Gain-of-function Nav1.8 mutations in painful neuropathy. |
Journal |
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Reference |
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Authors |
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 |
Title |
Gain-of-function mutations in SCN11A cause familial episodic pain. |
Journal |
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