Mitochondrial complex assembly in epilepsy of primary mitochondrial disease origin

McStay, GP ORCID: 0000-0003-1363-8719 (2026) Mitochondrial complex assembly in epilepsy of primary mitochondrial disease origin. Seizure European Journal of Epilepsy. ISSN 1059-1311

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Abstract

Primary mitochondrial diseases are caused by mutations in genes required for expression, function or assembly of the mitochondrial oxidative phosphorylation system. The pathology of primary mitochondrial diseases is varied and a subset of these are associated with epilepsy and seizures. Mutations are found in each of the 5 complexes of the oxidative phosphorylation system in both structural subunits and assembly factors along with mitochondrially encoded components of the protein synthesis machinery. This review will highlight the mutations identified in clinical case studies that are associated with epilepsy and seizures and include the studies using cell systems and other model organisms where molecular characterisation of oxidative phosphorylation is more extensive. The molecular causes of epilepsy have not been well characterised in the relevant cells. This review identifies gaps in knowledge and suggestions for future studies to advance the understanding of the molecular pathogenesis of epilepsy that is associated with primary mitochondrial disease.

Item Type:	Article
Uncontrolled Keywords:	Biogenesis; Electron transport chain; Epilepsy; Mitochondria; Oxidative phosphorylation; Seizures; 32 Biomedical and Clinical Sciences; 5202 Biological Psychology; 3202 Clinical Sciences; 3209 Neurosciences; 52 Psychology; Brain Disorders; Genetics; Health Disparities and Racial or Ethnic Minority Health Research; Neurosciences; Epilepsy; Minority Health; Neurodegenerative; 2.1 Biological and endogenous factors; 1.1 Normal biological development and functioning; Generic health relevance; Neurological; 1103 Clinical Sciences; 1109 Neurosciences; 1701 Psychology; Neurology & Neurosurgery; 3202 Clinical sciences; 3209 Neurosciences; 5202 Biological psychology
Subjects:	R Medicine > RA Public aspects of medicine R Medicine > RS Pharmacy and materia medica
Divisions:	Pharmacy and Biomolecular Sciences
Publisher:	Elsevier BV
Date of acceptance:	16 February 2026
Date of first compliant Open Access:	16 March 2026
Date Deposited:	16 Mar 2026 14:49
Last Modified:	16 Mar 2026 14:49
DOI or ID number:	10.1016/j.seizure.2026.02.016
URI:	https://researchonline.ljmu.ac.uk/id/eprint/28253

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