SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Abstract

Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, or OMIM 167400), is an inherited condition characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNa(v)1.7, identified eight missense… (More)
DOI: 10.1016/j.neuron.2006.10.006

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@article{Fertleman2006SCN9AMI, title={SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes}, author={Caroline R. Fertleman and Mark D Baker and Keith A. Parker and Sarah C Moffatt and Frances V. Elmslie and Bjarke Abrahamsen and Johan A R Ostman and Norbert Klugbauer and John N. Wood and R. Mark Gardiner and Michele Rees}, journal={Neuron}, year={2006}, volume={52}, pages={767-774} }