Neurological Disorders

Frequency, Clinical Manifestation and Treatment of Mitochondrial Epilepsy

Abstract

Josef Finsterer and Sinda Zarrouk-Mahjoub

Epilepsy in mitochondrial disorders (MIDs, mitochondrial epilepsy) is an increasingly recognised topic, due to the increasing prevalence of mitochondrial disorders also in adult patients. Aim of the study was to describe mitochondrial epilepsy as a dominant or collateral feature of the phenotype in syndromic and non-syndromic MIDs. Syndromic MIDs obligatory associated with epilepsy include MELAS-syndrome, MERRF-syndrome, Leigh-syndrome, myoclonic epilepsy, myopathy and sensory ataxia (MEMSA)-syndrome, also known as spino-cerebellar ataxia with epilepsy (SCAE), ANS, and Alpers-Huttenlocher-disease. Occasionally, mitochondrial epilepsy occurs in LHON, NARP, MILS, MIDD, CPEO, KSS, IOSCA, or LBSL. All types of seizures occur in mitochondrial epilepsy but in adult patients most frequently generalized tonic-clonic seizures, partial seizures, myoclonic seizures, or epilepsia partialis continua occur. Treatment of mitochondrial epilepsy is not at variance from epilepsy due to other causes but mitochondrion-toxic antiepileptic drugs, such as valproic acid, carbamazepine, phenytoin, phenobarbital, and oxcarbazepine should be avoided. Generally well tolerated antiepileptic drugs in mitochondrial epilepsy include lamotrigine, levetirazetam, and lacosamide.