Article
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
Neurology - 7 Aug 2007
Fertleman C R, Ferrie C D, Aicardi J, Bednarek N A F, Eeg-Olofsson O, Elmslie F V, Griesemer D A, Goutières F, Kirkpatrick M, Malmros I N O, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith V V, Testard H, Wong V, Stephenson J B P
Abstract excerpt
OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at...
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