ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Abstract

Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterised by the development of progressively worsening myoclonus, ataxia and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome.