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Vollmar, Christian; Wandschneider, Britta und Koepp, Matthias (2020): Bildgebung beim Janz-Syndrom (juvenile myoklonische Epilepsie). In: Zeitschrift für Epileptologie, Bd. 33, Nr. 2: S. 170-174

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Abstract

In the past 25 years neuroimaging studies have made a significant contribution to further the understanding of the pathophysiology of juvenile myoclonic epilepsy (JME). This article summarizes the key results of these studies and discusses their meaning in the context of genetic alterations and brain development in JME. In summary, JME is a complex neurodevelopmental disease resulting in multiple structural and functional alterations of cortical and subcortical structures. These alterations ultimately lead to a pathologically increased corticocortical connectivity, impaired cortical inhibition and impaired thalamocortical feedback regulation. Many of these alterations affect the frontocentral motor system but more recent studies have also shown significant alterations in other brain regions.

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