Status epilepticus in POLG disease: a large multinational study.
POLG
Epilepsy
Mitochondrial disease
Refractory status epilepticus
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
01 Jun 2024
01 Jun 2024
Historique:
received:
27
03
2024
accepted:
20
05
2024
revised:
16
05
2024
medline:
1
6
2024
pubmed:
1
6
2024
entrez:
1
6
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38822839
doi: 10.1007/s00415-024-12463-5
pii: 10.1007/s00415-024-12463-5
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Helse Vest
ID : F-12135
Organisme : Wellcome Trust
ID : G118015
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/V009346/1
Pays : United Kingdom
Organisme : Addenbrooke's Charitable Trust, Cambridge University Hospitals
ID : G100142
Organisme : NIHR Cambridge Biomedical Research Centre
ID : BRC-1215-20014
Informations de copyright
© 2024. The Author(s).
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