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2020

CURE Epilepsy Award

PI3K Signaling as a Novel Disease Mechanism-Based Target to Prevent or Reduce SUDEP

Christina Gross, Ph.D. - Steven Crone, Ph.D.
Cincinnati Children’s Hospital
 

Sudden Unexpected Death in Epilepsy (SUDEP) affects 1 in 1,000 people with epilepsy each year. The mechanisms of SUDEP are not fully understood, but may include breathing abnormalities. Dr. Gross and Dr. Crone will use mouse models to test if alterations in a specific genetic pathway in cells, called the PI3K/mTOR pathway, lead to breathing abnormalities and SUDEP. They will also test weather blocking this pathway with a specific compound reduces breathing abnormalities and SUDEP. The PI3K/mTOR pathway is often altered in epilepsy, and this work could therefore be the first step towards a novel treatment to reduce the risk for SUDEP.