Literature DB >> 17043302

What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder.

C R Fertleman, C D Ferrie.   

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Year:  2006        PMID： 17043302      PMCID： PMC2077381          DOI： 10.1136/jnnp.2006.089664

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  3 in total

1.  Rectal, ocular, and submaxillary pain; a familial autonomic disorder related to proctalgia fugaz: report of a family.

Authors:  R HAYDEN; M GROSSMAN
Journal:  AMA J Dis Child       Date:  1959-04

2.  Familial rectal pain.

Authors:  R E Dugan
Journal:  Lancet       Date:  1972-04-15       Impact factor: 79.321

3.  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:  Neuron       Date:  2006-12-07       Impact factor: 17.173
  3 in total
  15 in total

1.  Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.

Authors:  Jin-Sung Choi; Franck Boralevi; Olivier Brissaud; Jesús Sánchez-Martín; René H M Te Morsche; Sulayman D Dib-Hajj; Joost P H Drenth; Stephen G Waxman
Journal:  Nat Rev Neurol       Date:  2010-11-16       Impact factor: 42.937

Review 2.  Mutational consequences of aberrant ion channels in neurological disorders.

Authors:  Dhiraj Kumar; Rashmi K Ambasta; Pravir Kumar
Journal:  J Membr Biol       Date:  2014-08-14       Impact factor: 1.843

3.  A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.

Authors:  Yi Hua; Di Cui; Lin Han; Lu Xu; Shanshan Mao; Cuiwei Yang; Feng Gao; Zhefeng Yuan
Journal:  BMC Med Genomics       Date:  2022-07-15       Impact factor: 3.622

Review 4.  Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.

Authors:  Joost P H Drenth; Stephen G Waxman
Journal:  J Clin Invest       Date:  2007-12       Impact factor: 14.808

Review 5.  Sodium channelopathies and pain.

Authors:  Angelika Lampert; Andrias O O'Reilly; Peter Reeh; Andreas Leffler
Journal:  Pflugers Arch       Date:  2010-01-26       Impact factor: 3.657

6.  A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.

Authors:  Min-Tzu Wu; Po-Yuan Huang; Chen-Tung Yen; Chih-Cheng Chen; Ming-Jen Lee
Journal:  PLoS One       Date:  2013-01-31       Impact factor: 3.240

Review 7.  Identifying the Ion Channels Responsible for Signaling Gastro-Intestinal Based Pain.

Authors:  Stuart M Brierley; Patrick A Hughes; Andrea M Harrington; Grigori Y Rychkov; L Ashley Blackshaw
Journal:  Pharmaceuticals (Basel)       Date:  2010-08-26

8.  E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current.

Authors:  Kiichi Takahashi; Takayoshi Ohba; Yosuke Okamoto; Atsuko Noguchi; Hiroko Okuda; Hatasu Kobayashi; Kouji H Harada; Akio Koizumi; Kyoichi Ono; Tsutomu Takahashi
Journal:  Heliyon       Date:  2021-06-24

9.  Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.

Authors:  Mark E Samuels; Rene H M te Morsche; Mary E Lynch; Joost P H Drenth
Journal:  Mol Pain       Date:  2008-06-02       Impact factor: 3.395

10.  Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.

Authors:  Ashley Cannon; Svetlana Kurklinsky; Kimberly J Guthrie; Douglas L Riegert-Johnson
Journal:  Case Rep Neurol Med       Date:  2016-07-21
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