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Review
. 2021 Jun 22;8(7):532.
doi: 10.3390/children8070532.

Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment

Dorota Wesół-Kucharska  1 , Dariusz Rokicki  1 , Aleksandra Jezela-Stanek  2
Affiliations
Review

Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment

Dorota Wesół-Kucharska et al. Children (Basel). .

Abstract

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.

Keywords: antiepileptic drugs (AED); epilepsy; mitochondrial disorders; mtDNA; nDNA; treatment.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Pathophysiology of epilepsy in mitochondrial diseases. (GABA: γ-aminobutyric acid, Na+/K+: sodium–potassium ATPase, ROS: reactive oxygen species).
See this image and copyright information in PMC

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