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Mitochondrial disease and epilepsy.

Rahman, S; (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol , 54 (5) 397 - 406. 10.1111/j.1469-8749.2011.04214.x. Green open access

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Abstract

Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. Individuals with mitochondrial epilepsy are frequently prescribed multiple anticonvulsants, and the role of vitamins and other nutritional supplements and the ketogenic diet remain unproven.

Type: Article
Title: Mitochondrial disease and epilepsy.
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/j.1469-8749.2011.04214.x
Publisher version: http://dx.doi.org/10.1111/j.1469-8749.2011.04214.x
Language: English
Additional information: © The Author. Developmental Medicine & Child Neurology © 2012 Mac Keith Press. Full text made available to UCL Discovery by kind permission of Wiley.
Keywords: Animals, Brain Diseases, Metabolic, Inborn, Child, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial, Diagnosis, Differential, Epilepsy, Genetic Testing, Genotype, Humans, Infant, Ketogenic Diet, MELAS Syndrome, Mice, Mice, Transgenic, Mitochondrial Diseases, Mitochondrial Encephalomyopathies, Phenotype, Syndrome
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/1339548
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