{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T14:42:11Z","timestamp":1773931331818,"version":"3.50.1"},"reference-count":5,"publisher":"Danish Medical Association","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ugeskr L\u00e6ger"],"abstract":"<jats:p>In this case report, we present an 11-year-old girl who developed super-refractory status epilepticus (SRSE) after focal seizures. Initial investigations, including MRI, CSF analysis, and autoimmune panels, were normal. Despite extensive treatment with several anti-seizure medications, immunotherapy, attempt of treatment with ketogenic diet and anesthetic infusions targeting burst-suppression, no improvement occurred. Trio whole genome sequencing revealed compound heterozygous pathogenic variants in POLG, confirming mitochondrial disease. Due to poor prognosis and deterioration, treatment was withdrawn, and she died in ICU.<\/jats:p>","DOI":"10.61409\/v07250609","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T07:03:02Z","timestamp":1769670182000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["Super-refractory status epilepticus caused by hereditary mitochondrial disease"],"prefix":"10.61409","author":[{"given":"Niels Bach","family":"S\u00f8rensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Stamenkovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen Hollands","family":"Steffensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inge Ring","family":"Kofoed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"40208","published-online":{"date-parts":[[2026,1,26]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Trinka E, Cock H, Hesdorffer D, et al. A definition and classification of status epilepticus-Report of the ILAE Task Force on Classification of Status Epilepticus. Epilepsia. 2015;56(10):1515-1523. https:\/\/doi.org\/10.1111\/epi.13121","DOI":"10.1111\/epi.13121"},{"key":"ref1","unstructured":"Dansk Neurologisk Selskab. National behandlings- og visitationsvejledning for epilepsi. 2022. https:\/\/www.epilepsiforeningen.dk\/wp-content\/uploads\/2022\/06\/National-Behandlings-og-Visitationsvejledning-for-Epilepsi_DNS_juni2022.pdf"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"Vasquez P, Farias-Moeller R, Tatum W. Pediatric refractory and super-refractory status epilepticus. Seizure. 2019;68:62-71 https:\/\/doi.org\/10.1016\/j.seizure.2018.05.012","DOI":"10.1016\/j.seizure.2018.05.012"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 2006;129:1685-1692 https:\/\/doi.org\/10.1093\/brain\/awl097","DOI":"10.1093\/brain\/awl097"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"Hikmat O, AlTassan N, Engelsen BA, et al. Status epilepticus in POLG disease: a large multinational study. Journal of Neurology. 2024;271:5156-5164 https:\/\/doi.org\/10.1007\/s00415-024-12463-5","DOI":"10.1007\/s00415-024-12463-5"}],"container-title":["Ugeskrift for L\u00e6ger"],"original-title":[],"deposited":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:01:16Z","timestamp":1773921676000},"score":1,"resource":{"primary":{"URL":"https:\/\/ugeskriftet.dk\/videnskab\/V07250609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,26]]},"references-count":5,"URL":"https:\/\/doi.org\/10.61409\/v07250609","relation":{},"ISSN":["0041-5782","1603-6824"],"issn-type":[{"value":"0041-5782","type":"print"},{"value":"1603-6824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,26]]}}}