{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T23:25:24Z","timestamp":1787354724568,"version":"build-2736575974"},"reference-count":7,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Glucose transporter type I (Glut1) deficiency syndrome (Glut1DS) is associated with paroxysmal exertion-induced dystonia (PED). Episodes are published as brief, lasting 20 to 30\u2009minutes. Increasingly, Glut1DS patients report prolonged PED of more than 1\u2009hour duration. In a cohort of 60 Glut1DS patients seen in our institution within a 4-year period, a total of 26\/60 patients (43%) on ketogenic dietary therapy (KDT) experienced PED. In 18\/26 patients (30%), episodes lasted less than 1\u2009hour as previously described. In 8\/26 patients (13%), prolonged episodes lasted more than 1\u2009hour up to 1 day despite adequate dietary treatment. We conclude that PED is common in Glut1DS starting in late childhood despite adequate treatment with KDT. Prolonged PED in Glut1DS occurs in a subset of patients, also unresponsive to KDT, and represents a substantial burden to patients and families.<\/jats:p>","DOI":"10.1055\/a-2883-4228","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T22:38:31Z","timestamp":1781822311000},"page":"286-288","source":"Crossref","is-referenced-by-count":0,"title":["Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome"],"prefix":"10.1055","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-025X","authenticated-orcid":false,"given":"Joerg","family":"Klepper","sequence":"additional","affiliation":[{"name":"Childrens\u2019 Hospital Aschaffenburg-Alzenau, Germany","department":["Department of Pediatrics\/Neuropediatrics"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Kiesel","sequence":"additional","affiliation":[{"name":"Hospital Aschaffenburg-Alzenau, Germany","department":["Department of General Surgery"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Runkel","sequence":"additional","affiliation":[{"name":"Childrens\u2019 Hospital Aschaffenburg-Alzenau, Germany","department":["Department of Pediatrics\/Neuropediatrics"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,6,18]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/epi4.12414","article-title":"Glut1 deficiency syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group","volume":"5","author":"J Klepper","year":"2020","journal-title":"Epilepsia Open"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/mdc3.12387","article-title":"Paroxysmal nonepileptic events in Glut1 deficiency","volume":"3","author":"J Klepper","year":"2016","journal-title":"Mov Disord Clin Pract"},{"issue":"08","key":"ref3","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1002\/mds.29822","article-title":"Triheptanoin did not show benefit versus placebo for the treatment of paroxysmal movement disorders in Glut1 deficiency syndrome: Results of a randomized phase 3 study","volume":"39","author":"V De Giorgis","year":"2024","journal-title":"Mov Disord"},{"issue":"02","key":"ref4","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/s00415-010-5702-5","article-title":"Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency","volume":"258","author":"M Anheim","year":"2011","journal-title":"J Neurol"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/s00415-014-7250-x","article-title":"Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report","volume":"261","author":"F Baschieri","year":"2014","journal-title":"J Neurol"},{"issue":"12","key":"ref6","doi-asserted-by":"crossref","first-page":"2466","DOI":"10.1111\/j.1528-1167.2010.02726.x","article-title":"Mild adolescent\/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency","volume":"51","author":"Z Afawi","year":"2010","journal-title":"Epilepsia"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1186\/s13023-022-02513-4","article-title":"Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases","volume":"17","author":"S Olivotto","year":"2022","journal-title":"Orphanet J Rare Dis"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2883-4228.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T23:04:32Z","timestamp":1787353472000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2883-4228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,18]]},"references-count":7,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2026,8,21]]},"published-print":{"date-parts":[[2026,8]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2883-4228","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,18]]}}}