ARRAY-CGH: ELECTION TECHNIQUE TO STUDY CEREBRAL CORTEX MALFORMATIONS AND EPILEPSY

Mutations of genes responsible for the normal cerebral cortex development, the site of our human being, cause severe disorders such as epilepsy, autism, mental retardation and other cognitive disturbances. Some of the responsible genes have already been cloned but, from different findings, it is clear that many others participate to the complex pattern of cerebral cortex development and, if mutated, lead to brain dysfunctions. The definition of such genes will clarify the causes of the above-mentioned disorders and will provide an improvement of the actual diagnostic capabilities. It is obvious that only a precise comprehension of the processes underlying the brain development will lead to future treatments able to give a better fitness at least to epileptic persons. This project aims to find further causes of abnormal cerebral development through the use of a new technology that has all the features to mark a definitive change in the diagnostic approach to what is considered a central problem in the field of mental retardation and epilepsy.