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dc.contributor.authorHikmat, Omar
dc.contributor.authorNaess, Karin
dc.contributor.authorEngvall, Martin
dc.contributor.authorKlingenberg, Claus Andreas
dc.contributor.authorRasmussen, Magnhild
dc.contributor.authorBrodtkorb, Eylert
dc.contributor.authorOstergaard, Elsebet
dc.contributor.authorde Coo, Irenaeus
dc.contributor.authorPias-Peleteiro, Leticia
dc.contributor.authorIsohanni, Pirjo
dc.contributor.authorUusimaa, Johanna
dc.contributor.authorMajamaa, Kari
dc.contributor.authorKärppä, Mikko
dc.contributor.authorOrtigoza-Escobar, Juan Dario
dc.contributor.authorTangeraas, Trine
dc.contributor.authorBerland, Siren
dc.contributor.authorHarrison, Emma
dc.contributor.authorBiggs, Heather
dc.contributor.authorHorvath, Rita
dc.contributor.authorDarin, Niklas
dc.contributor.authorRahman, Shamima
dc.contributor.authorBindoff, Laurence Albert
dc.date.accessioned2024-10-03T08:36:23Z
dc.date.available2024-10-03T08:36:23Z
dc.date.issued2024-06-01
dc.description.abstractWe aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. 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 years. 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 epilepsia partialis continua 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 (P ≤ 0.001). The median time from SE debut to death was 5 months. 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.en_US
dc.identifier.citationHikmat, Naess, Engvall, Klingenberg, Rasmussen, Brodtkorb, Ostergaard, de Coo, Pias-Peleteiro, Isohanni, Uusimaa, Majamaa, Kärppä, Ortigoza-Escobar, Tangeraas, Berland, Harrison, Biggs, Horvath, Darin, Rahman, Bindoff. Status epilepticus in POLG disease: a large multinational study. Journal of Neurology. 2024en_US
dc.identifier.cristinIDFRIDAID 2277176
dc.identifier.doi10.1007/s00415-024-12463-5
dc.identifier.issn0340-5354
dc.identifier.issn1432-1459
dc.identifier.urihttps://hdl.handle.net/10037/34995
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.relation.journalJournal of Neurology
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2024 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0en_US
dc.rightsAttribution 4.0 International (CC BY 4.0)en_US
dc.titleStatus epilepticus in POLG disease: a large multinational studyen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's license is described as Attribution 4.0 International (CC BY 4.0)