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Lookup NU author(s): Professor Roger Whittaker, Professor Grainne Gorman, Dr Andrew Schaefer, Professor Rita HorvathORCiD, Dr Yi Ng, Dr Victoria Nesbitt, Dr Nichola Lax, Professor Bobby McFarlandORCiD, Professor Mark Cunningham, Professor Robert Taylor, Emeritus Professor Doug Turnbull
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Objective: The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease.Methods: We prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne between January 1, 2005 and January 1, 2008. We then followed this cohort over a 7-year period, recording primary outcome measures of occurrence of first seizure, status epilepticus, stroke-like episode, and death.Results: Overall prevalence of epilepsy in the cohort was 23.1%. Mean age of epilepsy onset was 29.4 years. Prevalence varied widely between genotypes, with several genotypes having no cases of epilepsy, a prevalence of 34.9% in the most common genotype (m.3243A>G mutation), and 92.3% in the m.8344A>G mutation. Among the cohort as a whole, focal seizures, with or without progression to bilateral convulsive seizures, was the most common seizure type. Conversely, all of the patients with the m.8344A>G mutation and epilepsy experienced myoclonic seizures. Patients with the m.3243A>G mutation remain at high risk of developing stroke-like episodes (1.16% per year). However, although the standardized mortality ratio for the entire cohort was high (2.86), this ratio did not differ significantly between patients with epilepsy (2.96) and those without (2.83).Interpretation: Epilepsy is a common manifestation of mitochondrial disease. It develops early in the disease and, in the case of the m.3243A>G mutation, often presents in the context of a stroke-like episode or status epilepticus. However, epilepsy does not itself appear to contribute to the increased mortality in mitochondrial disease.
Author(s): Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM
Publication type: Article
Publication status: Published
Journal: Annals of Neurology
Year: 2015
Volume: 78
Issue: 6
Pages: 949-957
Print publication date: 01/12/2015
Online publication date: 17/11/2015
Acceptance date: 16/09/2015
ISSN (print): 0364-5134
ISSN (electronic): 1531-8249
Publisher: Wiley-Blackwell Publishing Ltd.
URL: http://dx.doi.org/10.1002/ana.24525
DOI: 10.1002/ana.24525
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