Familial episodic pain syndrome

Definition:

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.

References:

[1]. Barbara Kremeyer, et al. A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron. 2010 Jun 10;66(5):671-80. [Content Brief]

[2]. Catharina G Faber, et al. Gain-of-function Nav1.8 mutations in painful neuropathy. Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19444-9. [Content Brief]

[3]. Xiang Yang Zhang, et al. Gain-of-function mutations in SCN11A cause familial episodic pain. Am J Hum Genet. 2013 Nov 7;93(5):957-66. [Content Brief]

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