Toggle Main Menu Toggle Search

Open Access padlockePrints

Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy

Lookup NU author(s): Dr Rhys ThomasORCiD


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Juvenile myoclonic epilepsy (JME) is a clinically and genetically heterogenous, generalized epilepsy syndrome usually starting in adolescence. An age-related, predominantly frontocortical-subcortical network dysfunction is likely to be the substrate of bilateral myoclonic seizures occurring at full consciousness within hours after awakening, which are the clinical hallmark of JME. Although essential features of JME were recognized by Herpin more than 140 years ago, it is still an enigmatic epilepsy syndrome in many ways; advanced imaging techniques reveal multi-focal abnormalities in this paradigmatic generalized epilepsy syndrome; clinical studies reveal a major role of genetics in etiology, but the underlying molecular changes are likely to be highly heterogeneous; many JME patients have psycho-social issues, even though their intelligence is normal; antiepileptic drugs (AEDs), notably valproic acid, achieve seizure remission in two thirds of patients, but more patients seem to relapse after stopping AEDs than in any other epilepsy syndrome. This pessimistic outlook has been challenged in recent population-based studies and needs to be assessed in randomized AED withdrawal trials. This review summarizes recent focus neuroimaging, genetic, and behavioral aspects of JME and re-appraises the entrenched view that remission off AEDs is exceptionally rare in JME. © Informa UK, Ltd.

Publication metadata

Author(s): Koepp MJ, Thomas RH, Wandschneider B, Berkovic SF, Schmidt D

Publication type: Review

Publication status: Published

Journal: Expert Review of Neurotherapeutics

Year: 2014

Volume: 14

Issue: 7

Pages: 819-831

Print publication date: 01/07/2014

Online publication date: 14/06/2014

Acceptance date: 01/01/1900

ISSN (print): 1473-7175

ISSN (electronic): 1744-8360

Publisher: Expert Reviews Ltd.


DOI: 10.1586/14737175.2014.928203

PubMed id: 24931665