Affiliation:
1. Epilepsy Research Centre, Department of Medicine University of Melbourne Austin Health Melbourne Victoria Australia
2. Department of Neurology University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA
Abstract
AbstractProgressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized 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. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).
Funder
Mirowski Family Foundation
National Health and Medical Research Council
National Institute of Neurological Disorders and Stroke
Subject
Neurology (clinical),Neurology,General Medicine
Cited by
2 articles.
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