title: Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.
abstract: The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. Challenges with PME arise from difficulty with diagnosis, especially in the early stages of the illness, and further problems of management and drug treatment. Recent advances in molecular genetics have helped achieve better understanding of the different disorders that cause PME. We review the PMEs with emphasis on updated genetics, diagnosis, and therapeutic options.
authors.affiliation: Department of Neurology and Neuroscience, Beaumont Hospital, Dublin, Ireland.
authors.forename: Amre
authors.initials: A
authors.lastname: Shahwan
authors.forename: Michael
authors.initials: M
authors.lastname: Farrell
authors.forename: Norman
authors.initials: N
authors.lastname: Delanty
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D006801:Humans; D020192:Lafora Disease / Q000150:complications / Q000235:genetics / Q000628:therapy; D017243:MERRF Syndrome / Q000150:complications / Q000235:genetics / Q000628:therapy; D009081:Mucolipidoses / Q000150:complications / Q000235:genetics / Q000628:therapy; D018482:Muscle, Skeletal / Q000473:pathology; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000209:etiology* / Q000235:genetics* / Q000628:therapy*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000235:genetics / Q000628:therapy; D020194:Unverricht-Lundborg Syndrome / Q000150:complications / Q000235:genetics / Q000628:therapy