Epilepsy in mitochondrial disorders

Laurence A Bindoff MD PhD (Prof. Bindoff of the University of Bergen has no relevant financial relationships to disclose.)
Jerome Engel Jr MD PhD, editor. (Dr. Engel of the David Geffen School of Medicine at the University of California, Los Angeles, has no relevant financial relationships to disclose.)
Originally released October 9, 2011; last updated March 12, 2017; expires March 12, 2020


Mitochondrial diseases that arise from defects in the respiratory chain, the metabolic pathway that produces ATP, are potent causes of epilepsy and are usually part of a syndrome, eg, myoclonus epilepsy with ragged-red fibers (MERRF) or mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). The seizures can be focal or generalized and show a predilection for the occipital lobes, and there is a high risk of status epilepticus. In this clinical article the author reviews the types of mitochondrial disease commonly associated with epilepsy and the seizures that are known to occur.

Key points


• Mitochondrial dysfunction is a potent cause of epilepsy, and status epilepticus can be the presenting feature.


• Both partial and generalized epilepsy and myoclonus occur in mitochondrial disease.


• Mitochondrial epilepsy shows predilection for the occipital lobes.


• Sodium valproate is absolutely contraindicated in patients with mitochondrial epilepsy caused by POLG mutations.

Historical note and terminology

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

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