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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-11-2014
Symbol FEPS1
Location 8q13.3
Name episodic pain syndrome, familial, 1
Corresponding gene TRPA1
Main clinical features
  • onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress
  • 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; episodes of intense pain were accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease