Juvenile myoclonic epilepsy: is it an idiopathic epilepsy caused by a malformation of cortical development?
作者： Michael Wong
DOI: 10.1111/J.1535-7511.2010.01360.X
关键词: Neocortex 、 Loss function 、 Cell cycle 、 Neuroscience 、 Mitotic spindle organization 、 Juvenile myoclonic epilepsy 、 Epilepsy 、 Progenitor cell 、 Pathology 、 Cell division 、 Biology
摘要: EFHC1 Interacts with Microtubules to Regulate Cell Division and Cortical Development. de Nijs L, Leon C, Nguyen Loturco JJ, Delgado-Escueta AV, Grisar T, Lakaye B. Nat Neurosci 2009;12(10):1266–1274. Mutations in the gene are linked juvenile myoclonic epilepsy (JME), one of most frequent forms idiopathic generalized epilepsies. JME is associated subtle alterations cortical subcortical architecture, but underlying pathological mechanism remains unknown. We found that a microtubule-associated protein involved regulation cell division. In vitro, loss function disrupted mitotic spindle organization, impaired M-phase progression, induced microtubule bundling, increased apoptosis. impairment rat developing neocortex by ex vivo utero electroporation caused marked disruption radial migration. this effect was result progenitors failing exit cycle defects glia scaffold organization locomotion postmitotic neurons. Therefore, we propose regulator division neuronal migration during development its functions leads JME.
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