{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:55:50Z","timestamp":1790502950791,"version":"4.1.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,5,13]],"date-time":"2020-05-13T00:00:00Z","timestamp":1589328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,5,13]],"date-time":"2020-05-13T00:00:00Z","timestamp":1589328000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G\u2009&gt;\u2009T (p.Val1298Phe) in the <jats:italic>SCN9A<\/jats:italic> gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Twenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were identified missens mutations in the SCN9A gene (NM_002977.3:c.3892G\u2009&gt;\u2009T). The onset of the disorder took place in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate with extreme pain, skin flushing and harlequin colour change were observed in all. Attacks of excruciating deep burning pain often appear in the rectal, or jaw areas, but also diffuse in the body. Attacks are triggered by factors such as: defecation, eating, pressure and emotion. Carbamazepine and other antiepileptic drugs were only partly effective in almost all, but the response was incomplete.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>Paroxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction. Paroxysmal extreme pain disorder is rare, so far only 500 cases of both women and men have been described in world literature.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12883-020-01770-9","type":"journal-article","created":{"date-parts":[[2020,5,13]],"date-time":"2020-05-13T09:19:35Z","timestamp":1589361575000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Paroxysmal extreme pain disorder in family with c.3892G &gt; T (p.Val1298Phe) in the SCN9A gene mutation \u2013 case report"],"prefix":"10.1186","volume":"20","author":[{"given":"Adam","family":"St\u0119pie\u0144","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0507-9526","authenticated-orcid":false,"given":"Daria","family":"Sa\u0142aci\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Staszewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Durka-K\u0119sy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Dobrogowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,5,13]]},"reference":[{"key":"1770_CR1","doi-asserted-by":"publisher","unstructured":"Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 2006;52:767\u201374. https:\/\/doi.org\/10.1016\/j.neuron.2006.10.006.","DOI":"10.1016\/j.neuron.2006.10.006"},{"key":"1770_CR2","doi-asserted-by":"publisher","unstructured":"Cannon A, Kurlinsky S, Guthrie KJ, Riegert-Johnson DL. Advanced genetic testing comes to the pain clinic to make a diagnosis of paroxysmal extreme pain disorder. Case Rep Neurol Med. 2016, Article ID 9212369. https:\/\/doi.org\/10.1155\/2016\/9212369.","DOI":"10.1155\/2016\/9212369"},{"key":"1770_CR3","first-page":"735","volume-title":"Leczenie b\u00f3lu","author":"J Wordliczek","year":"2017","unstructured":"Wordliczek J, Dobrogowski J. Leczenie b\u00f3lu. Warsaw: PZWL; 2017. p. 735\u20139."},{"key":"1770_CR4","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1074\/jbc.M113.502211","volume":"289","author":"M Eberhardt","year":"2014","unstructured":"Eberhardt M, Nakajima J, Klinger AB, Neacsu C, H\u00fchne K, O\u2019Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A. Inherited Pain sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. J Biol Chem. 2014;289:1971\u201380. http:\/\/www.jbc.org\/content\/289\/4\/1971.","journal-title":"J Biol Chem"},{"key":"1770_CR5","doi-asserted-by":"publisher","unstructured":"Hayden R, Grossman M. Rectal, ocular, and submaxillary pain, a familial autonomic disorder related to proctalgia fugax: report of a family. A.M.A. Am J Dis Child. 1959;97:479\u201382. https:\/\/doi.org\/10.1001\/archpedi.1959.02070010481013.","DOI":"10.1001\/archpedi.1959.02070010481013"},{"key":"1770_CR6","doi-asserted-by":"publisher","unstructured":"Jarecki BW, Sheets PL, Jackson II JO, Cummins TR. Paroxysmal extreme pain disorder mutations within the D3\/S4 linker of Nav1.7 cause moderate destabilization of fast inactivation. J Physiol. 2008;586:4137\u2013153. https:\/\/physoc.onlinelibrary.wiley.com\/doi\/pdf\/https:\/\/doi.org\/10.1113\/jphysiol.2008.154906.","DOI":"10.1113\/jphysiol.2008.154906"},{"key":"1770_CR7","doi-asserted-by":"publisher","unstructured":"Choi JS, Boralevi F, Brissaud O, S\u00e1nchez-Mart\u00edn J, te Morsche RHM, Dib-Hajj SD, Drenth JPH, Waxman SG. Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons. Nat Rev Neurol. 2011;7:51\u201355. https:\/\/doi.org\/10.1038\/nrneurol.2010.162.","DOI":"10.1038\/nrneurol.2010.162"},{"key":"1770_CR8","doi-asserted-by":"publisher","unstructured":"Fertleman CR, Ferrie CD, Aicardi J, Bednarek NAF, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Gouti\u00e8res F, Kirkpatrick M, Malmros INO, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JBP. Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurol. 2007;69(6):586\u201395. https:\/\/doi.org\/10.1212\/01.wnl.0000268065.16865.5f.","DOI":"10.1212\/01.wnl.0000268065.16865.5f"},{"key":"1770_CR9","doi-asserted-by":"crossref","unstructured":"Dib-Hajj SD, Estacion M, Jarecki BW, Tyrrell L, Fischer TZ, Lawden M, Cummins TR, Waxman SG. Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable. Mol Pain. 2008;4:37. https:\/\/doi.org\/10.1186%2F1744-8069-4-37.","DOI":"10.1186\/1744-8069-4-37"},{"key":"1770_CR10","doi-asserted-by":"publisher","unstructured":"Suter MR. What are the treatment options for paroxysmal extreme pain disorder? Pain Manag. 2015;5(4):229\u201332. https:\/\/doi.org\/10.2217\/pmt.15.24.","DOI":"10.2217\/pmt.15.24"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-020-01770-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-020-01770-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-020-01770-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T23:14:00Z","timestamp":1620861240000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-020-01770-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,13]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1770"],"URL":"https:\/\/doi.org\/10.1186\/s12883-020-01770-9","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,13]]},"assertion":[{"value":"29 August 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 May 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ethical approval was not necessary for preparation of this article.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consents were obtained from four patients for publication of this Case Report and any accompanying images. Copies of the written consents are available for review by the Editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"182"}}