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

Dorota Wesół-KucharskaDariusz RokickiAleksandra Jezela-Stanek
Published in: Children (Basel, Switzerland) (2021)
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.
Keyphrases
  • poor prognosis
  • oxidative stress
  • healthcare
  • end stage renal disease
  • long non coding rna
  • ejection fraction
  • chronic kidney disease
  • newly diagnosed
  • peritoneal dialysis
  • smoking cessation
  • replacement therapy