ILAE Genetics Literacy series: Progressive myoclonus epilepsies

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 es...

Full description

Saved in:
Bibliographic Details
Published in:Epileptic disorders 2023-10, Vol.25 (5), p.670-680
Main Authors: Cameron, Jillian M, Ellis, Colin A, Berkovic, Samuel F
Format: Article
Language:English
Subjects:
Ataxia
Epilepsy
Gene mapping
Genotypes
Myoclonus
Phenotypes
Review
Seizures
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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).
ISSN:1294-9361
1950-6945
DOI:10.1002/epd2.20152