Consensus Statement on the treatment of Epilepsy in Primary Mitochondrial Diseases

Epilepsy is one of the most common features of central nervous system involvement in primary mitochondrial diseases (PMDs). During the disease course of PMD,20%–50% of patients will experience seizures that are notoriously recurrent in 90% of cases. Treatment of mitochondrial epilepsy is particularly challenging, even for expert epileptologists.

Five European Reference Networks (ERNs) interested in PMD—EpiCare (for rare epilepsies), ERN EYE (rare ophthalmological diseases), ERN-RND (for rare neurological diseases), EURO-NMD (for rare neuromuscular diseases) and MetabERN (hereditary metabolic diseases)—came together to constitute an InterERN Working Group that aims to develop standard work around care, education and research on PMDs, collectively termed the Mito InterERNs.

Cognisant of the lack of available evidence, the Mito InterERNs group had developed a consensus statement about safe antiseizure medications use and management of seizures in children and adults with PMD.

By Michelangelo Mancuso, MD, PhD.