Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/33614
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.
URI: https://ahro.austin.org.au/austinjspui/handle/1/33614
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

Show full item record

Page view(s)

26
checked on Nov 21, 2024

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.