Reelin' in Genes for Cortical Dysplasia

AUTOR(ES)

Crino, Peter B.

RESUMO

Malformations of cortical development are a broad family of disorders that are characterized by abnormal cytoarchitecture of the cerebral cortex and a high association with epilepsy. In recent years positional cloning strategies have been implemented to identify several distinct gene mutations that are responsible for developmental brain malformations. The defined functional roles of proteins encoded by these genes have provided pivotal insights into the cellular mechanisms of brain development. Identification of these genes provides important clinical information used in genetic counseling for patients and their families.

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