{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:39:56Z","timestamp":1790969996395,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T00:00:00Z","timestamp":1712188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,7]]},"abstract":"Abstract<\/jats:title>Background and purpose<\/jats:title>Primary 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.<\/jats:p><\/jats:sec>Methods<\/jats:title>A 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.<\/jats:p><\/jats:sec>Results<\/jats:title>A 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<\/jats:italic> disease, vigabatrin in patients with \u03b3\u2010aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>These consensus recommendations describe our intent to improve seizure control and reduce the risk of drug\u2010related adverse events in individuals living with PMD\u2010related epilepsy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16275","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T06:30:23Z","timestamp":1712298623000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs<\/scp> Mitochondrial Working Group"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2738-8562","authenticated-orcid":false,"given":"Michelangelo","family":"Mancuso","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Neurological Institute University of Pisa Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria T.","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology University Hospital of Lyon, Member of the ERN EpiCARE Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi Shiau","family":"Ng","sequence":"additional","affiliation":[{"name":"Wellcome 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"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1969-0147","authenticated-orcid":false,"given":"Anna","family":"Ardissone","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Bellusci","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders MetabERN, Mitochondrial Disorders Research Group (imas12) \u201812 de Octubre\u2019 University Hospital Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Research Unit of Neuromuscular Disease Translational Pediatrics and Clinical Genetics, Bambino Gesu\u2019 Children's Research Hospital, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Di\u00a0Vito","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE) Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Functional Unit of Neuromuscular pathology and Department of Neuromyology, Institute of Myology, EURO\u2010NMD coordination, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital APHP Sorbonne University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Fons","sequence":"additional","affiliation":[{"name":"Epilepsy and Neurometabolics Units, Pediatric Neurology Department, Hospital Sant Joan de D\u00e9u Institut de Recerca Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Hikmat","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen and Department of Clinical Medicine (K1) University of Bergen Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Cambridge Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2805-4652","authenticated-orcid":false,"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[{"name":"Department of Neurology, Friedrich\u2010Baur\u2010Institute, LMU University Hospital Ludwig\u2010Maximilians\u2010Universit\u00e4t M\u00fcnchen Munich Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) Munich Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy) Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Kornblum","sequence":"additional","affiliation":[{"name":"Department of Neurology, Section of Neuromuscular Diseases University Hospital Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costanza","family":"Lamperti","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Licchetta","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE) Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria 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