Browse by author
Lookup NU author(s): Dr Laura Alexandra SmithORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2025Epilepsy is a common and severe neurological manifestation of primary mitochondrial disease, affecting approximately 60 % of paediatric patients and 20 % of adult patients. Many of the mitochondrial epilepsies, particularly those presenting in childhood, are refractory to anti-epileptic treatment. Moreover, these conditions are typically characterised by severe neurodegeneration and closely associated with neurological decline and premature death. Indeed, there persists an urgent need to delineate the mechanisms underpinning mitochondrial epilepsy in order to develop effective treatments. In this review, we provide an overview of currently available in vitro models of the mitochondrial epilepsies. Such models offer opportunities to characterise early disease pathophysiology and interrogate novel mitochondrial-targeting and anti-epileptic treatments, with an overall aim to modulate seizure associated pathology and activity for the mitochondrial epilepsies. We discuss the use of acute cortical and subcortical brain slice preparations, obtained from both neurosurgical patients and rodents, for modelling the common neuropathophysiological features of mitochondrial epilepsy. We also review the use of induced pluripotent stem cell derived neural and glial culture models, and the development of three-dimensional cerebral organoids, generated from fibroblasts obtained from patients with primary mitochondrial disease. Human-derived, disease-relevant in vitro model systems which recapitulate the complexity and pathological features observed in patient brain tissues are crucial to help bridge the gap between animal models and patients living with mitochondrial epilepsy.
Author(s): Smith LA, Keane EB, Connor K, Chan F, Cunningham MO
Publication type: Review
Publication status: Published
Journal: Seizure
Year: 2025
Pages: epub ahead of print
Online publication date: 10/05/2025
Acceptance date: 10/05/2025
ISSN (print): 1059-1311
ISSN (electronic): 1532-2688
Publisher: W.B. Saunders Ltd
URL: https://doi.org/10.1016/j.seizure.2025.05.005
DOI: 10.1016/j.seizure.2025.05.005
