Malformations of cortical development: burdens and insights from important causes of human epilepsy.
Malformations of cortical development (MCD) are important causes of chronic epilepsy in human beings. A blanket term, MCD encompasses many varied developmental disorders with diverse clinical manifestations in patients that neurologists, paediatricians, and learning disability psychiatrists will encounter. Advances in imaging and genetics have led to a significant increase in our understanding of MCD, which has in turn enriched our knowledge of human epileptogenesis and normal brain development and function. In this review, I discuss some of the most common or enlightening MCD: focal cortical dysplasia, periventricular heterotopia, polymicrogyria, band heterotopia and lissencephaly, dysembryoplastic neuroepithelial tumours, and microdysgenesis. Clinical and imaging features, genetic aetiologies, treatments, and the insights that have resulted from MCD study are covered. The burden of epilepsy due to MCD is significant and there is still much to learn about MCD.
Sisodiya
Sanjay M
SM
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK. sisodiya@ion.ucl.ac.uk
D002540:Cerebral Cortex / Q000002:abnormalities* / Q000254:growth & development / Q000473:pathology*; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology