Cortical Malformations in Pediatric Epilepsy: Towards a Molecular and Cellular Understanding of Focal Cortical Dysplasia

Focal Cortical Dysplasia (FCD) is a brain-malformation that causes debilitating and often difficult-to-control epilepsy in children. FCD is caused by genetic mutations that result in the abnormal development of a small region of the brain.

Dr. Subramanian and her team plan to explore how genetic errors in a small number of developing brain cells become brain malformations that are associated with seizures. Cutting-edge technology will be used to examine thousands of individual cells from healthy and seizure-generating brain regions for high-risk genes and also to characterize abnormal cell types seen in FCD. Advanced techniques will be used to recreate FCD-associated mutations in a laboratory model of brain development to understand how the disease alters normal developmental processes. These studies will help us to understand how FCD develops and help discover new drug targets and therapeutic interventions.