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Fertleman, Caroline R.; Baker, Mark D.; Parker, Keith A.; Moffatt, Sarah; Elmslie, Frances V.; Abrahamsen, Bjarke; Ostman, Johan; Klugbauer, Norbert; Wood, John N.; Gardiner, R. Mark; Rees, Michele
Neuron (Cambridge, Mass.), 12/2006, Letnik: 52, Številka: 5Journal Article
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 v1.7, identified eight missense mutations in 11 families and 2 sporadic cases. Functional analysis in vitro of three of these mutant Na v1.7 channels revealed a reduction in fast inactivation, leading to persistent sodium current. Other mutations in SCN9A associated with more negative activation thresholds are known to cause primary erythermalgia (PE). Carbamazepine, a drug that is effective in PEPD, but not PE, showed selective block of persistent current associated with PEPD mutants, but did not affect the negative activation threshold of a PE mutant. PEPD and PE are allelic variants with distinct underlying biophysical mechanisms and represent a separate class of peripheral neuronal sodium channelopathy.
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