2014

Pediatric Epilepsies Awards

Identification Of Novel Therapies For Intractable Pediatric Epilepsy Due To The Cortical Dysplasias

Laura Jansen, MD, PhD
University of Virginia
 

Cortical Dysplasia, a type of brain malformation, is a common and understudied cause of childhood epilepsy. Seizures due to cortical dysplasia frequently do not respond to currently used anti-seizure medications, making it the most common reason for epilepsy surgery in childhood. Many cortical dysplasias are associated with abnormal activity of a signaling chain of events that occurs inside neurons. This specific chain of events is called the PI3K/AKT signaling pathway. In this project, we will combine studies of surgically-resected human brain specimens with those of a patient-specific neuronal culture model in order to examine the effects of medications that inhibit this pathway. Our ability to test potential therapies directly on tissue from an affected child as well as on neurons expressing the same genetic mutation as that child will pave the way for the application of "personalized medicine" techniques to the treatment of intractable pediatric epilepsy.

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