Abstract

In the chapter examples of genetic and environmental factors and their interactions in birth defects causation are presented. Birth defects discussed include segmental overgrowth, holoprosencephaly, cleft lip and palate. Specific neurodevelopmental disorders and gene and environmental factors putatively related to these disorders are presented. Aspects of developmental trajectories of neuronal circuits and networks are discussed. Information on Autism, syndromic and non-syndromic is presented in some detail, including data on epidemiology, epigenetics, genetic risk factors, functional magnetic resonance imaging. Aspects of Epilepsy. including rare and common epilepsy, molecular defects in specific proteins in rare epilepsies, mosaicism in epilepsy and research efforts to obtain insight into the molecular basis of common epilepsy are discussed.

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