Pediatric Epilepsies Awards

Molecular Genetic Decoding Of Brain Somatic Mutations In Intractable Pediatric Epilepsies

Jeong Ho Lee, MD, PhD
Korea Advanced Institute of Science and Technology

Genetic abnormalities in small areas of the brain can lead to disruption of the entire brain by interfering with normal neuronal signaling. Focal epilepsies in children are one example of this and genetic mutations arising in specific brain regions can lead to abnormally synchronized electrical discharges and seizures. In this project, we will systematically uncover mutations occurring in the brain of children with intractable epilepsies who have undergone epilepsy surgery. The identification of brain-only genetic mutations will not only reveal the cause of the epilepsy, but will also provide information on biomarkers and medically actionable targets, which are important as we seek to treat these childhood drug-resistant epilepsies.


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