A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood


Lafora Disease (LD) is an autosomal-recessive disorder first described as a fatal form of progressive myoclonic epilepsy. LD is a neurodegenerative disease caused by mutations in one of two genes: EPM2A encoding laforin or NHLRC1 encoding malin; the mutations trigger loss-of-function of (respectively) glucogen phosphatase and E3 ubiquitin ligase [1]. Classical LD usually presents in adolescence; the symptoms include stimulus-sensitive myoclonus, tonic–clonic–absence epilepsy, and visual hallucinations [2].


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