Title: SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Authors: Caroline R Fertleman, Mark D Baker, Keith A Parker, Sarah Moffatt, Frances V Elmslie, Bjarke Abrahamsen, Johan Ostman, Norbert Klugbauer, John N Wood, R Mark Gardiner, Michele Rees

Journal, date & volume: Neuron, 2006 Dec 7 , 52, 767-74

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17145499

Abstract