Epilepsy is one of the most common neurological disorders in humans, with a prevalence of ~1% and a lifetime incidence of up to 3%. Epilepsy is characterized by recurrent seizures due to abnormal, synchronized neuronal firing in the brain. Although it has long been known that epilepsy has a strong genetic component, the epilepsy genes discovered to date explain only a small fraction of disease. In this project, we are working to identify novel genetic causes of the most severe forms of epilepsy, the epileptic encephalopathies. We use state-of-the-art technologies including array comparative genomic hybridization, exome sequencing and targeted candidate gene resequencing to find mutations that cause disease. Using this combination of genomic approaches, we hope to identify new genes and pathways important in brain development and epileptogenesis.
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