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Review
. 2023 Oct;25(5):670-680.
doi: 10.1002/epd2.20152. Epub 2023 Sep 6.

ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Jillian M Cameron  1 , Colin A Ellis  2 , Samuel F Berkovic  1 ; ILAE Genetics Commission; ILAE Genetic Literacy Task Force
Collaborators, Affiliations
Review

ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Jillian M Cameron et al. Epileptic Disord. 2023 Oct.

Abstract

Progressive 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).

Keywords: progressive myoclonus epilepsies.

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Figures

FIGURE 1
FIGURE 1
Diagnostic approach to suspected PME.
See this image and copyright information in PMC

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