Sign Up for a Free Account
  • Updated 01.03.2024
  • Released 10.09.2011
  • Expires For CME 01.03.2027

Mitochondrial epilepsy



Primary mitochondrial diseases are the most frequent inherited metabolic disorders in humans, with a prevalence of approximately one in 4300 cases. They can be caused by either mitochondrial or nuclear DNA mutations and are hallmarked by defects of the mitochondrial respiratory chain, the site of oxidative phosphorylation. In both infants and adults, epilepsy is a major clinical feature of primary mitochondrial diseases. It has pleiomorphic characteristics with a high risk of status epilepticus and can occur sporadically, but it is often part of specific phenotypes, such as myoclonus epilepsy with ragged-red fibers, POLG-related disease, or mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Treatment of mitochondrial epilepsy may be challenging. In this article, the authors offer an overview of mitochondrial epilepsy.

Key points

• Seizures and status epilepticus represent one of the most frequent central nervous system symptoms of primary mitochondrial diseases.

• Approximately 20% to 50% of patients with primary mitochondrial disease have seizures during their disease course.

• Both focal and generalized epilepsy and myoclonus occur in primary mitochondrial disease.

• The pathological mechanism underlying mitochondrial epilepsy is not totally understood.

• Specific genotypes have a higher risk of developing epilepsy (m.3243A > G, m.8344A > G, POLG).

• The management of epilepsy and status epilepticus should be personalized for each patient, given the high phenotypic heterogeneity of primary mitochondrial diseases.

Historical note and terminology

The historical note and nomenclature for specific mitochondrial disorders are discussed in their respective sections.

This is an article preview.
Start a Free Account
to access the full version.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

  • Listen to MedLink on the go with Audio versions of each article.

Questions or Comment?

MedLink®, LLC

3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122

Toll Free (U.S. + Canada): 800-452-2400

US Number: +1-619-640-4660



ISSN: 2831-9125