Epilepsy in mitochondrial disorders

Seizure. 2012 Jun;21(5):316-21. doi: 10.1016/j.seizure.2012.03.003. Epub 2012 Mar 27.


Objectives: Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic and non-syndromic mitochondrial disorders frequently manifest with focal or generalized seizures. Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the phenotype.

Methods: Literature search via Pubmed using the key words "mitochondrial", "epilepsy", "seizures", and all acronyms of syndromic mitochondrial disorders.

Results: Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported. Treatment of epilepsy in patients with mitochondrial disorders is not at variance from epilepsy of other causes but mitochondrion-toxicity of various antiepileptic drugs, such as valproic acid, carbamazepine etc. has to be considered to avoid severe complications or deterioration of the underlying disease.

Conclusions: Epilepsy is a common phenotypic feature of syndromic as well as non-syndromic mitochondrial disorders. Treatment of epilepsy in mitochondrial disorders is not at variance from treatment of epilepsy due to other causes but mitochondrion-toxic drugs should be avoided.

Publication types

  • Review

MeSH terms

  • Anticonvulsants / therapeutic use
  • Ataxia* / etiology
  • Ataxia* / therapy
  • Epilepsy* / complications
  • Epilepsy* / etiology
  • Epilepsy* / therapy
  • Humans
  • Mitochondrial Diseases* / complications
  • Mitochondrial Diseases* / etiology
  • Mitochondrial Diseases* / therapy
  • Mutation / genetics*
  • Phenotype*


  • Anticonvulsants