Toggle Main Menu Toggle Search

Open Access padlockePrints

Epilepsy in Adults With Mitochondrial Disease: A Cohort Study

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


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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.

Publication metadata

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.


DOI: 10.1002/ana.24525


Altmetrics provided by Altmetric


Funder referenceFunder name
UK NHS Specialized Services and Newcastle upon Tyne Hospitals NHS Foundation Trust
UK National Institute for Health Research Biomedical Research Center for Aging and Age-related Diseases
Wellcome Trust
096919Z/11/ZWellcome Trust
G0601943Medical Research Council
G0800674Medical Research Council