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In a multinational, retrospective study with data on patients with POLG disease from seven European countries, we identified those who had SE. The age of SE onset, accompanying clinical, laboratory, imaging and genetic findings were analysed. One hundred and ninety-five patients with genetically confirmed POLG disease were recruited, of whom 67% (130\/194) had epilepsy. SE was identified in 77% (97\/126), with a median age of SE onset of 7\u00a0years. SE was the presenting symptom of the disease in 43% (40\/93) of those with SE, while 57% (53\/93) developed SE during the disease course. Convulsive SE was reported in 97% (91\/94) followed by\n                    <jats:italic>epilepsia partialis continua<\/jats:italic>\n                    in 67% (56\/84). Liver impairment 78% (74\/95), ataxia 69% (60\/87), stroke-like episodes 57% (50\/88), were the major comorbidities. In the majority (66%; 57\/86) with SE this became refractory or super-refractory. The presence of seizures was associated with significantly higher mortality compared to those without\n                    <jats:italic>(P<\/jats:italic>\n                    \u2009\u2264\u20090.001). The median time from SE debut to death was 5\u00a0months. SE is a major clinical feature of POLG disease in early and juvenile to adult-onset disease and can be the presenting feature or arise as part of a multisystem disease. It is associated with high morbidity and mortality, with the majority of patients with SE going on to develop refractory or super-refractory SE.\n                  <\/jats:p>","DOI":"10.1007\/s00415-024-12463-5","type":"journal-article","created":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T04:01:46Z","timestamp":1717214506000},"page":"5156-5164","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Status epilepticus in POLG disease: a large multinational study"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9497-736X","authenticated-orcid":false,"given":"Omar","family":"Hikmat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Naess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Engvall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus","family":"Klingenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnhild","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eylert","family":"Brodtkorb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsebet","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irenaeus","family":"de Coo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leticia","family":"Pias-Peleteiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Uusimaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Majamaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"K\u00e4rpp\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Dario","family":"Ortigoza-Escobar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trine","family":"Tangeraas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siren","family":"Berland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Biggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Darin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamima","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence A.","family":"Bindoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,1]]},"reference":[{"issue":"5","key":"12463_CR1","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1038\/35072063","volume":"2","author":"J Smeitink","year":"2001","unstructured":"Smeitink J, van den Heuvel L, DiMauro S (2001) The genetics and pathology of oxidative phosphorylation. 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Ethical approval for the study was granted by the Regional Committee for Medical and Health Research Ethics, Western Norway (REK 2014\/1783\u20134) and the other participant centers, as per the respective hospital policies.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical statement"}},{"value":"Anonymized data and the clinical record form for this study will be available upon reasonable request to the corresponding author.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data availability"}}]}}