학술논문
ILAE Genetics Literacy series: Progressive myoclonus epilepsies
Document Type
Article
Author
Cameron, Jillian M.; Ellis, Colin A.; Berkovic, Samuel F.; Perucca, Piero; Cross, J. Helen; Lerche, Holger; Esterhuizen, Alina I.; Lopes‐Cendes, Iscia; Tsai, Meng‐Han; Lowenstein, Daniel H.; Tan, Nigel C. K.; Helbig, Ingo; Mefford, Heather C.; Brunklaus, Andreas; Lesca, Gaetan; Palmer, Elizabeth Emma; McTague, Amy; Fakhfakh, Faiza; Delanty, Norman; Lowenstein, Daniel H.; Tan, Nigel C. K.; Esterhuizen, Alina I.
Source
Epileptic Disorders; October 2023, Vol. 25 Issue: 5 p670-680, 11p
Subject
Language
ISSN
12949361; 19506945
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).