Malformation of cortical development: the genesis of epileptogenic networks
Wednesday, June 2, 2021
16:00 UTC
Prof Alfonso Represa
INSERM, Institut de Neurobiologie de la Méditerranée
Recording
Open recording
Hosted by Clinical and Experimental Epilepsy70 minutes
Abstract
Malformations of cortical development (MCDs) result from alterations of one or combined developmental steps, including progenitors proliferation, neuronal migration and differentiation. They are important cause of childhood epilepsy and frequently associate cognitive deficits and behavioral alterations. Though the genetic basis of MCDs have known prominent progress during the past decade, including the identification of somatic, mosaic mutations responsible for focal MCDs, the pathophysiological mechanisms linking malformations to epileptogenesis remain elusive. In this seminar I will present data from my team and from the literature addressing this topic in two different MCDs types, the subcortical band heterotopia as a model of cortical migration defect and mTOR- dependent MCDs , that characterize by cortical dyslamination and neuronal differentiation defects.
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