Rahman, S;
(2019)
Advances in the treatment of mitochondrial epilepsies.
Epilepsy & Behavior
, 101
, Article 106546. 10.1016/j.yebeh.2019.106546.
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Abstract
Epilepsy is frequently a severe and sinister symptom in primary mitochondrial diseases, a group of more than 350 different genetic disorders characterized by mitochondrial dysfunction and extreme clinical and biochemical heterogeneity. Mitochondrial epilepsy is notoriously difficult to manage, principally because the vast majority of primary mitochondrial diseases currently lack effective therapies. Treating the underlying mitochondrial disorder is likely to be a more effective strategy than using traditional antiepileptic drugs. This review, initially presented at the 7th London-Innsbruck Colloquium on Status Epilepticus and Acute Seizures at the Francis Crick Institute in London, summarizes the currently available and emerging therapies for mitochondrial epilepsy. Potentially treatable mitochondrial diseases include disorders of coenzyme Q10 biosynthesis and a group of mitochondrial respiratory chain complex I subunit and assembly factor defects that respond to riboflavin (vitamin B2). Approaches that have been adopted in actively recruiting clinical trials include redox modulation, harnessing mitochondrial biogenesis, using rapamycin to target mitophagy, nucleoside supplementation, and gene and cell therapies. Most of the clinical trials are at an early stage (Phase 1 or 2) and none of the currently active trials is specifically targeting mitochondrial epilepsy.
| Type: | Article |
|---|---|
| Title: | Advances in the treatment of mitochondrial epilepsies |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.yebeh.2019.106546 |
| Publisher version: | https://doi.org/10.1016/j.yebeh.2019.106546 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Behavioral Sciences, Clinical Neurology, Psychiatry, Neurosciences & Neurology, Mitochondrial disease, Clinical trials, Antioxidants, Mitochondrial biogenesis, Rapamycin, Gene therapy, MOUSE MODEL, GENE-THERAPY, MUTATIONS, DISEASE, SPECTRUM, TRANSPLANTATION, STRATEGIES, DISORDERS, PHENOTYPE, DIAGNOSIS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10088370 |
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