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Title: ILAE Genetics Literacy Series: Progressive Myoclonus Epilepsies.
Austin Authors: Cameron, Jillian M ;Ellis, Colin A;Berkovic, Samuel F 
Affiliation: Epilepsy Research Centre
Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Medicine (University of Melbourne)
Issue Date: 24-Aug-2023
Date: 2023
Publication information: Epileptic disorders : International Epilepsy Journal with Videotape 2023-08-24
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.
DOI: 10.1002/epd2.20152
ORCID: 0000-0003-4580-841X
Journal: Epileptic disorders : International Epilepsy Journal with Videotape
PubMed URL: 37616028
ISSN: 1950-6945
Type: Journal Article
Subjects: Progressive Myoclonus Epilepsies
Appears in Collections:Journal articles

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