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.
Highlights
Mitochondria are organelles that are present in almost all cells of the body, which are primarily responsible for producing energy by the process of oxidative phosphorylation (OXPHOS), play a role in the homeostasis of calcium ions, take part in signal transduction between cells by producing reactive oxygen species, and participate in cell apoptosis [1,2]
Pathophysiology of Epilepsy in Mitochondrial Diseases Epileptic seizure is a sudden and excessive neural discharge resulting from uncontrolled depolarisation of the neural membrane, and its spread is caused by impaired mechanisms regulating this transmission, e.g., balance between inhibitory
Most interventions and guidelines are related to symptomatic treatment, with supplementation of cofactors, vitamins, or antioxidants, and mild exercises are recommended
Summary
Mitochondria are organelles that are present in almost all cells of the body, which are primarily responsible for producing energy (in the form of ATP) by the process of oxidative phosphorylation (OXPHOS), play a role in the homeostasis of calcium ions, take part in signal transduction between cells by producing reactive oxygen species, and participate in cell apoptosis [1,2]. The diseases may result both from a pathogenic variant in all 37 genes of mitochondrial DNA (mtDNA) and damage to nuclear DNA (nDNA). 2. Pathophysiology of Epilepsy in Mitochondrial Diseases Epileptic seizure is a sudden and excessive neural discharge resulting from uncontrolled depolarisation of the neural membrane, and its spread is caused by impaired mechanisms regulating this transmission, e.g., balance between inhibitory 2. Pathophysiology of Epilepsy in Mitochondrial Diseases Epileptic seizure is a sudden and excessive neural discharge resulting from un2coof n11-. Typical features include: (1) developmental regression or developmental delay, (2) specific basal ganglia/brain stem changes bilaterally, and (3) abnormal mitochondrial energy metabolism; epileptic seizures are frequent, both focal and generalised. L-arginine and/or citrulline as prevention and treatment of stroke-like episodes
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