Evidence map›Paper›PMID 38576261›Full record

ArticleEuropean journal of neurology2024

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

Michelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, Anna Ardissone, Marcello Bellusci, Enrico Bertini, Lidia Di Vito, Teresinha Evangelista, Carmen Fons, Omar Hikmat and 15 more

Open access · goldAbstract readConsensus Statement
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026
    Review
  2. Review
  3. Article
  4. Review
  5. Causes of and Solutions to Mitochondrial Disorders: A Literature Review.International journal of molecular sciences · 2025
    Review
  6. Article
  7. Observational
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors at 18 institutions in 8 countries.

Michelangelo MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.ORCID 0000-0003-2738-8562
Maria T PapadopoulouDepartment of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospital of Lyon, Member of the ERN EpiCARE, Lyon, France.
Yi Shiau NgWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute AND National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University, Newcastle upon Tyne, UK.
Anna ArdissoneFondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0003-1969-0147
Marcello BellusciReference Center for Inherited Metabolic Disorders MetabERN, Mitochondrial Disorders Research Group (imas12), '12 de Octubre' University Hospital, Madrid, Spain.
Enrico BertiniResearch Unit of Neuromuscular Disease, Translational Pediatrics and Clinical Genetics, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
Lidia Di VitoIRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.
Teresinha EvangelistaDepartment of Neuropathology, Functional Unit of Neuromuscular pathology and Department of Neuromyology, Institute of Myology, EURO-NMD coordination, Pitié-Salpêtrière Hospital, APHP Sorbonne University, Paris, France.
Carmen FonsEpilepsy and Neurometabolics Units, Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Omar HikmatDepartment of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen and Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID 0000-0002-9841-170X
Thomas KlopstockDepartment of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0003-2805-4652
Cornelia KornblumDepartment of Neurology, Section of Neuromuscular Diseases, University Hospital Bonn, Bonn, Germany.
Costanza LampertiFondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Laura LicchettaIRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.
Maria Judit MolnarInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Kristin N VarhaugDepartment of Neurology, Haukeland University Hospital, Bergen, Norway.
Mar O'CallaghanEpilepsy and Neurometabolics Units, Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Ronit M PresslerUCL Great Ormond Street Institute of Child Health, London, UK.
Manuel SchiffReference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Cité, MetabERN, Paris, France.
Serenella ServideiDipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Nora SzaboSaint John's Hospital, Child Epilepsy Centre, Budapest, Hungary.
Gráinne S GormanWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute AND National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University, Newcastle upon Tyne, UK.
J Helen CrossUCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0001-7345-4829
Shamima RahmanUCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0003-2088-730X
Great Ormond Street Hospital · GBFondazione IRCCS Istituto Neurologico Carlo Besta · ITHaukeland University Hospital · NOHospital Sant Joan de Déu Barcelona · ESIstituto delle Scienze Neurologiche di Bologna · ITNewcastle upon Tyne Hospitals NHS Foundation Trust · GBBambino Gesù Children's Hospital · ITCentre de Recherche en Neurosciences de Lyon · FRGerman Center for Neurodegenerative Diseases · DEHôpital Necker-Enfants Malades · FRResearch Institute Hospital 12 de Octubre · ESSaint John's Hospital · BESemmelweis University · HUSorbonne Université · FRUniversità Cattolica del Sacro Cuore · ITUniversity Hospital Bonn · DEUniversity of Cambridge · GBUniversity of Pisa · IT

Funding

This project has received funding from the European Joint Programme on Rare Diseases (EJP RD). The EJP RD initiative has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement N°825575Wellcome Trust
6 · The paper itself

Abstract

background and purposePrimary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature. The aim of this study was to develop guidelines and consensus recommendations on safe medication use and seizure management in mitochondrial epilepsy.

methodsA panel of 24 experts in mitochondrial medicine, pharmacology and epilepsy management of adults and/or children and two patient representatives from seven countries was established. Experts were members of five different European Reference Networks, known as the Mito InterERN Working Group. A Delphi technique was used to allow the panellists to consider draft recommendations on safe medication use and seizure management in mitochondrial epilepsy, using two rounds with predetermined levels of agreement.

resultsA high level of consensus was reached regarding the safety of 14 out of all 25 drugs reviewed, resulting in endorsement of National Institute for Health and Care Excellence guidelines for seizure management, with some modifications. Exceptions including valproic acid in POLG disease, vigabatrin in patients with γ-aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted.

conclusionsThese consensus recommendations describe our intent to improve seizure control and reduce the risk of drug-related adverse events in individuals living with PMD-related epilepsy.

Indexed as

AnticonvulsantsMitochondrial DiseasesSeizuresDelphi TechniqueEpilepsyHumansAnticonvulsantsconsensusepilepsymanagementmitochondrial diseasesrecommendations

Identifiers

PMID38576261
PMCPMC11235721
OpenAlexW4393987999

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.