Search: WFRF:(Ostergaard Elsebet) >
Status epilepticus ...
Status epilepticus in POLG disease: a large multinational study
-
Hikmat, Omar (author)
-
Naess, Karin (author)
-
Engvall, Martin (author)
-
show more...
-
Klingenberg, Claus (author)
-
Rasmussen, Magnhild (author)
-
Brodtkorb, Eylert (author)
-
Ostergaard, Elsebet (author)
-
de Coo, Irenaeus (author)
-
Pias-Peleteiro, Leticia (author)
-
Isohanni, Pirjo (author)
-
Uusimaa, Johanna (author)
-
Majamaa, Kari (author)
-
Kaerppae, Mikko (author)
-
Ortigoza-Escobar, Juan Dario (author)
-
Tangeraas, Trine (author)
-
Berland, Siren (author)
-
Harrison, Emma (author)
-
Biggs, Heather (author)
-
Horvath, Rita (author)
-
- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
-
Rahman, Shamima (author)
-
Bindoff, Laurence A. (author)
-
show less...
-
(creator_code:org_t)
- 2024
- 2024
- English.
-
In: JOURNAL OF NEUROLOGY. - 0340-5354 .- 1432-1459.
- Related links:
-
https://gup.ub.gu.se...
-
show more...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- We 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Epilepsy
- Mitochondrial disease
- POLG
- Refractory status epilepticus
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Hikmat, Omar
-
Naess, Karin
-
Engvall, Martin
-
Klingenberg, Cla ...
-
Rasmussen, Magnh ...
-
Brodtkorb, Eyler ...
-
show more...
-
Ostergaard, Else ...
-
de Coo, Irenaeus
-
Pias-Peleteiro, ...
-
Isohanni, Pirjo
-
Uusimaa, Johanna
-
Majamaa, Kari
-
Kaerppae, Mikko
-
Ortigoza-Escobar ...
-
Tangeraas, Trine
-
Berland, Siren
-
Harrison, Emma
-
Biggs, Heather
-
Horvath, Rita
-
Darin, Niklas, 1 ...
-
Rahman, Shamima
-
Bindoff, Laurenc ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Neurosciences
- Articles in the publication
-
JOURNAL OF NEURO ...
- By the university
-
University of Gothenburg
-
Karolinska Institutet