Epilepsy – De Novo Copy Number Variation and Gene Discovery In Human Brain Malformations

The work proposed in this grant will lead to the discovery of many of the genes that cause of birth defects of the brain and related – but often less severe – developmental disorders. These results will prove immediately helpful in providing better information regarding diagnosis and prognosis to the families of affected children, and will also lead to better understanding of the underlying biology and in some cases to more effective treatment.  A project investigating children with early epileptic encephalopathies such as infantile spasms is ongoing.  A subgroup of patients who have epilepsy surgery will have further molecular diagnostic studies of brain tissue.  Drs. Dobyns, Novotny, Saneto, and Ojemann are collaborating on this project.

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