ABSTRACT

Epilepsy in patients with mitochondrial disorders, the mitochondrial epilepsies are challenging to diagnose and treat due to their heterogeneous clinical manifestations and are grossly under-recognized. High index of suspicion and meticulous analysis of clinical, biochemical and neuroimaging features can help in early diagnosis of mitochondrial epilepsies. There are various mechanisms postulated to explain the pathophysiological process in mitochondrial epilepsy.

Mitochondrial etiology is suspected when the epilepsy occurs in association with multisystem disease, explosive onset of focal epilepsy, epilepsia partialis continua, status epilepticus with apparently good inter-ictal period, recurrent physiological triggers and worsening following sodium valproate. Progressive myoclonic epilepsy syndromes especially in association with multisystem presentation such as peripheral neuropathy, elevated creatinine phospho kinase (CPK), deafness, exercise intolerance should alert the clinicians toward a mitochondrial etiology. With the application of newer sequencing technologies, more mitochondrial proteins implicated in mitochondrial epilepsies may be identified. Even though there is advancement in the diagnostic evaluation, the therapeutic options in mitochondrial epilepsy remain limited and await further research.