spinocerebellar ataxia with epilepsy (MONDO_0016809) is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate. Also known as: MSCAE, SCAE, mitochondrial spinocerebellar ataxia with epilepsy.