Focal cortical dysplasia is a common brain malformation and a significant cause of epilepsy. Many patients are resistant to drug therapy or are not candidates for epilepsy surgery. Focal cortical dysplasia can be caused by spontaneous mutations in a small number of developing brain cells, but these mutations are difficult to identify. Dr. Parent and his team will use human neural stem cells engineered to have random mutations in order to screen for and identify novel gene mutations that cause focal cortical dysplasia-like abnormalities in human brain cells. Identifying novel genetic causes of brain malformations should reveal molecular pathways that lead to epilepsy and allow for the discovery of new drug targets.
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