Mitochondrial epilepsies
Evidence-based neurology checklist on mitochondrial epilepsies: Mitochondrial diseases presenting with epilepsy Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) Myoclonic epilepsy with ragged red fibers (MERRF) Alpers syndrome Mitochondrial recessive ataxia syndrome…
Mitochondrial diseases presenting with epilepsy
- Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)
- Myoclonic epilepsy with ragged red fibers (MERRF)
- Alpers syndrome
- Mitochondrial recessive ataxia syndrome (MIRAS)
- Spinocerebellar ataxia with epilepsy (SCAE)
- Myoclonus, epilepsy, myopathy, sensory ataxia (MEMSA)
- Leigh syndrome
Presentations
Electroencephalogram (EG)
References
- Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol 2012; 54:397-406.
- Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008; 131:818-828.
- Wolf NI, Rahman S, Schmitt B, et al. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia 2009; 50:1596-1607.
- Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M. Mitochondrial epilepsy, a challenge for neurologists. Int J Mol Sci 2022; 23:13216.
