Abstract
Lafora Disease is an autosomal recessive progressive myoclonus epilepsy with onset in teen age and death within 10 years. By age 20, patients are commonly debilitated with near-constant myoclonus associated with atypical absences interrupting every thought and spoken sentence, have significant cognitive decline and are wheelchair bound. The disease is caused by mutations in either the EPM2A gene encoding the laforin glycogen phosphatase or the EPM2B gene coding for the malin ubiquitin E3 ligase [1].
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