Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.
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.
Shahwan
Amre
A
Department of Neurology and Neuroscience, Beaumont Hospital, Dublin, Ireland.
Farrell
Michael
M
Delanty
Norman
N
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