Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 11-02-2019
Symbol FEPS2
Location 3p22.2
Name episodic pain syndrome, familial, 2
Corresponding gene SCN10A
Main clinical features
  • neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities
  • nerve conduction studies were normal, but skin biopsy showed reduced intraepidermal nerve fiber density in the distal leg
  • skin biopsy showed complete epidermal denervation
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function