Status epilepticus in POLG disease: a large multinational study

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 di...

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Autores: Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Majamaa, K, Kaerppae, M, Ortigoza-Escobar, JD, Tangeraas, T, Berland, S, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S, Bindoff, LA
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p26430
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26430
Access Level:acceso abierto
Palabra clave:Epilepsy
Mitochondrial disease
POLG
Refractory status epilepticus
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spelling Status epilepticus in POLG disease: a large multinational studyHikmat, ONaess, KEngvall, MKlingenberg, CRasmussen, MBrodtkorb, EOstergaard, Ede Coo, IPias-Peleteiro, LIsohanni, PUusimaa, JMajamaa, KKaerppae, MOrtigoza-Escobar, JDTangeraas, TBerland, SHarrison, EBiggs, HHorvath, RDarin, NRahman, SBindoff, LAEpilepsyMitochondrial diseasePOLGRefractory status epilepticusWe 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.SPRINGER HEIDELBERG2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26430JOURNAL OF NEUROLOGYISSN: 03405354ISSNe: 14321459reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p264302026-05-27T12:37:41Z
dc.title.none.fl_str_mv Status epilepticus in POLG disease: a large multinational study
title Status epilepticus in POLG disease: a large multinational study
spellingShingle Status epilepticus in POLG disease: a large multinational study
Hikmat, O
Epilepsy
Mitochondrial disease
POLG
Refractory status epilepticus
title_short Status epilepticus in POLG disease: a large multinational study
title_full Status epilepticus in POLG disease: a large multinational study
title_fullStr Status epilepticus in POLG disease: a large multinational study
title_full_unstemmed Status epilepticus in POLG disease: a large multinational study
title_sort Status epilepticus in POLG disease: a large multinational study
dc.creator.none.fl_str_mv Hikmat, O
Naess, K
Engvall, M
Klingenberg, C
Rasmussen, M
Brodtkorb, E
Ostergaard, E
de Coo, I
Pias-Peleteiro, L
Isohanni, P
Uusimaa, J
Majamaa, K
Kaerppae, M
Ortigoza-Escobar, JD
Tangeraas, T
Berland, S
Harrison, E
Biggs, H
Horvath, R
Darin, N
Rahman, S
Bindoff, LA
author Hikmat, O
author_facet Hikmat, O
Naess, K
Engvall, M
Klingenberg, C
Rasmussen, M
Brodtkorb, E
Ostergaard, E
de Coo, I
Pias-Peleteiro, L
Isohanni, P
Uusimaa, J
Majamaa, K
Kaerppae, M
Ortigoza-Escobar, JD
Tangeraas, T
Berland, S
Harrison, E
Biggs, H
Horvath, R
Darin, N
Rahman, S
Bindoff, LA
author_role author
author2 Naess, K
Engvall, M
Klingenberg, C
Rasmussen, M
Brodtkorb, E
Ostergaard, E
de Coo, I
Pias-Peleteiro, L
Isohanni, P
Uusimaa, J
Majamaa, K
Kaerppae, M
Ortigoza-Escobar, JD
Tangeraas, T
Berland, S
Harrison, E
Biggs, H
Horvath, R
Darin, N
Rahman, S
Bindoff, LA
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Epilepsy
Mitochondrial disease
POLG
Refractory status epilepticus
topic Epilepsy
Mitochondrial disease
POLG
Refractory status epilepticus
description 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.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26430
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26430
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv SPRINGER HEIDELBERG
publisher.none.fl_str_mv SPRINGER HEIDELBERG
dc.source.none.fl_str_mv JOURNAL OF NEUROLOGY
ISSN: 03405354
ISSNe: 14321459
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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