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Lookup NU author(s): Dr Rhys ThomasORCiD
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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.
Author(s): Koepp MJ, Thomas RH, Wandschneider B, Berkovic SF, Schmidt D
Publication type: Review
Publication status: Published
Journal: Expert Review of Neurotherapeutics
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.
PubMed id: 24931665