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Episodic pain syndrome, familial, 1; FEPS1

Disease ID:330
Name:Episodic pain syndrome, familial, 1; FEPS1
Associated with:1 target
Familial episodic pain syndrome | Familial episodic pain syndrome with predominantly upper body involvement
An autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress.
Database Links
OMIM: 615040
Orphanet: ORPHA391389, ORPHA391384


References:  1
Mutations:  TRPA1 is associated with 1 mutation. Click here for details


No ligand related data available for Episodic pain syndrome, familial, 1; FEPS1


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1. Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR et al.. (2010) A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron, 66 (5): 671-80. [PMID:20547126]