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Malformations of cortical development and epilepsy Leventer RJ; Guerrini R; Dobyns WBDialogues Clin Neurosci 2008[]; 10 (1): 47-62Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures. A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etiologic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD. The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.|Cell Movement/genetics[MESH]|Cerebral Cortex/*abnormalities/physiopathology[MESH]|Epilepsy/*etiology/physiopathology[MESH]|Humans[MESH]|Lissencephaly/complications/physiopathology[MESH]|Malformations of Cortical Development/complications/physiopathology[MESH]|Nervous System Malformations/*complications/physiopathology[MESH]|Periventricular Nodular Heterotopia/complications/physiopathology[MESH]|Tuberous Sclerosis/complications/physiopathology[MESH] |
