Mitochondrial Epilepsy, a Challenge for Neurologists

Int J Mol Sci. 2022 Oct 30;23(21):13216. doi: 10.3390/ijms232113216.

Abstract

Primary mitochondrial diseases are relatively common inborn errors of energy metabolism, with a combined prevalence of 1 in 4300. These disorders typically affect tissues with high energy requirements, including the brain. Epilepsy affects >1% of the worldwide population, making it one of the most common neurological illnesses; it may be the presenting feature of a mitochondrial disease, but is often part of a multisystem clinical presentation. The major genetic causes of mitochondrial epilepsy are mutations in mitochondrial DNA and in the nuclear-encoded gene POLG. Treatment of mitochondrial epilepsy may be challenging, often representing a poor prognostic feature. This narrative review will cover the most recent advances in the field of mitochondrial epilepsy, from pathophysiology and genetic etiologies to phenotype and treatment options.

Keywords: Leigh syndrome; MELAS; MERRF; POLG-related disorders; epilepsy; mitochondrial epilepsy; primary mitochondrial disease; stroke-like episode.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics
  • Epilepsy* / etiology
  • Epilepsy* / genetics
  • Humans
  • Mitochondria / genetics
  • Mitochondrial Diseases* / complications
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / therapy
  • Mutation
  • Neurologists

Substances

  • DNA, Mitochondrial