التفاصيل البيبلوغرافية
| العنوان: |
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group |
| المؤلفون: |
Mancuso, Michelangelo, Papadopoulou, Maria T., Ng, Yi Shiau, Ardissone, Anna, Bellusci, Marcello, Bertini, Enrico, Di Vito, Lidia, Evangelista, Teresinha, Fons, Carmen, Hikmat, Omar, Horvath, Rita, Klopstock, Thomas, Kornblum, Cornelia, Lamperti, Costanza, Licchetta, Laura, Molnar, Maria Judit, Varhaug, Kristin N., O'Callaghan, Mar, Pressler, Ronit M., Schiff, Manuel, Servidei, Serenella, Szabo, Nora, Gorman, Gráinne S., Cross, J Helen, Rahman, Shamima |
| بيانات النشر: |
European Journal of Neurology |
| سنة النشر: |
2024 |
| المجموعة: |
Apollo - University of Cambridge Repository |
| مصطلحات موضوعية: |
recommendations, epilepsy, mitochondrial diseases, consensus, management |
| الوصف: |
Publication status: Published ; Funder: 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°825575 ; Background and purpose: 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. Methods: 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. Results: 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 disease, vigabatrin in patients with γ‐aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted. Conclusions: These 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. |
| نوع الوثيقة: |
other/unknown material |
| وصف الملف: |
application/pdf; text/xml |
| اللغة: |
English |
| العلاقة: |
https://www.repository.cam.ac.uk/handle/1810/366695Test |
| الإتاحة: |
https://www.repository.cam.ac.uk/handle/1810/366695Test |
| رقم الانضمام: |
edsbas.D4372061 |
| قاعدة البيانات: |
BASE |
