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Mitochondrial diseases and status epilepticus

Rahman, S; (2018) Mitochondrial diseases and status epilepticus. Epilepsia , 59 (S2) pp. 70-77. 10.1111/epi.14485. Green open access

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Abstract

This narrative review focuses on the pathophysiology, diagnosis, and management of status epilepticus in the context of primary mitochondrial disease. Epilepsy is common in mitochondrial disease, reported in >20% of adult cases and 40%‐60% of pediatric cohorts. Status epilepticus is less frequently reported and appears to be associated with particular subgroups of mitochondrial disorders, namely defects of the mitochondrial DNA and its maintenance, and disorders of mitochondrial translation and dynamics. Mechanisms underlying mitochondrial status epilepticus are incompletely understood, and may include bioenergetic failure, oxidative stress, immune dysfunction, and impaired mitochondrial dynamics. Treatments tried in mitochondrial status epilepticus include antiepileptic drugs, anesthetic agents, magnesium, high‐dose steroids, immune globulins, vagus nerve stimulation, and surgical procedures, all with variable success. The outcome of mitochondrial status epilepticus is extremely poor, and effective therapeutic options have not been reported. Improved understanding of the mechanisms underpinning mitochondrial status epilepticus is needed in order to develop more effective treatments.

Type: Article
Title: Mitochondrial diseases and status epilepticus
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/epi.14485
Publisher version: https://doi.org/10.1111/epi.14485
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: Mitochondrial epilepsy pathophysiology, POLG, mitochondrial translation, mitochondrial dynamics, treatment
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/10059228
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