title: Juvenile myoclonic epilepsy: A system disorder of the brain.
abstract: The prevailing understanding of generalized epilepsy is shaped by the traditional definition that "the responsible neuronal discharge takes place, if not throughout the entire grey matter, then at least in the greater part of it and simultaneously on both sides". This view is no longer tenable since concurrent findings using multiple methods have accumulated to reveal the role of bilateral networks of distributed and selective cortical and subcortical structures in so-called generalized ictogenesis. Most of this research has been focused on juvenile myoclonic epilepsy (JME), which today is commonly considered the archetypical syndrome of the idiopathic generalized epilepsies. Based upon recent research in the fields of clinical epileptology, neuropsychology and psychiatry, clinical neurophysiology, neuroimaging and epilepsy genetics this article, for the first time, unites these new findings into a comprehensive nosological view. Genetically determined dysfunctions of important cognitive systems like visuomotor coordination and linguistic communication appear now as key mechanisms of seizure generation in JME. This review suggests a new paradigm to consider JME as a system disorder of the brain analogous to other neurological system disorders.
authors.affiliation: Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Clinical Medicine, Neurological Service, Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. Electronic address: pwl@filadelfia.dk.
authors.forename: Peter
authors.initials: P
authors.lastname: Wolf
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: yacubian@terra.com.br.
authors.forename: Elza Márcia Targas
authors.initials: EM
authors.lastname: Yacubian
authors.affiliation: Department of Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: avanzini@istituto-besta.it.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Avanzini
authors.affiliation: Center for Genomics, University of Cologne, Germany. Electronic address: sandert@uni-koeln.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Sander
authors.affiliation: Department of Neurology, Vivantes Humboldt-Klinikum, Berlin, Germany. Electronic address: Bettina.Schmitz@vivantes.de.
authors.forename: Bettina
authors.initials: B
authors.lastname: Schmitz
authors.affiliation: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address: b.wandschneider@ucl.ac.uk.
authors.forename: Britta
authors.initials: B
authors.lastname: Wandschneider
authors.affiliation: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address: m.koepp@ucl.ac.uk.
authors.forename: Matthias
authors.initials: M
authors.lastname: Koepp
mesh_terms: D001921:Brain / Q000503:physiopathology*; D002648:Child; D003071:Cognition; D004829:Epilepsy, Generalized / Q000503:physiopathology; D006801:Humans; D001523:Mental Disorders / Q000209:etiology; D020190:Myoclonic Epilepsy, Juvenile / Q000503:physiopathology* / Q000523:psychology; D059906:Neuroimaging
keywords: Cognitive systems; Functional anatomy; Generalized epilepsies; Juvenile myoclonic epilepsy; System epilepsies