Paroxysmal Extreme Pain Disorder

Disease ID:736
Name:Paroxysmal Extreme Pain Disorder
Associated with:1 target
Database Links
OMIM: 167400
Orphanet: ORPHA46348


Role:  Mutations in Nav1.7 lead to periods of rectal, ocular, or submandibular pain with flushing.
References:  1,3,5
Mutations:  Nav1.7 is associated with 9 mutation. Click here for details


No ligand related data available for Paroxysmal Extreme Pain Disorder


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1. Catterall WA, Yu FH. (2006) Painful channels. Neuron, 52 (5): 743-4. [PMID:17145494]

2. Cheng X, Dib-Hajj SD, Tyrrell L, Wright DA, Fischer TZ, Waxman SG. (2010) Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders. Mol Pain, 6: 24. [PMID:20429905]

3. Choi JS, Boralevi F, Brissaud O, Sánchez-Martín J, Te Morsche RH, Dib-Hajj SD, Drenth JP, Waxman SG. (2011) Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons. Nat Rev Neurol, 7 (1): 51-5. [PMID:21079636]

4. Dib-Hajj SD, Estacion M, Jarecki BW, Tyrrell L, Fischer TZ, Lawden M, Cummins TR, Waxman SG. (2008) Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable. Mol Pain, 4: 37. [PMID:18803825]

5. Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M. (2006) SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron, 52 (5): 767-74. [PMID:17145499]

6. Jarecki BW, Sheets PL, Jackson JO, Cummins TR. (2008) Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. J. Physiol. (Lond.), 586 (Pt 17): 4137-53. [PMID:18599537]

7. Jarecki BW, Sheets PL, Xiao Y, Jackson JO, Cummins TR. (2009) Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T. Channels (Austin), 3 (4): 259-67. [PMID:19633428]

8. Theile JW, Jarecki BW, Piekarz AD, Cummins TR. (2011) Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. J. Physiol. (Lond.), 589 (Pt 3): 597-608. [PMID:21115638]