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Genetic Substrates and Physiological Triggers for Autonomic and Cardiac Abnormalities in Dravet Syndrome

David Auerbach, PhD – The Research Foundation for SUNY/Upstate Medical University
Genetic Substrates and Physiological Triggers for Autonomic and Cardiac Abnormalities in Dravet Syndrome
Clinical Research Grant – 2 years, $150,000
**Co-funded with JAM for Dravet


Grant Summary
: Patients with Dravet syndrome (DS) are at a high risk of sudden death. The cause of death is often unknown, and is termed Sudden Unexpected Death in Epilepsy (SUDEP). Parents plea that their child might be alive if we could identify predictive markers for SUDEP. We need to look outside the brain to reduce the risk of sudden death. Using cellular and animal models, I demonstrated that DS mutations result in electrical disturbances in the heart, and cardiac arrhythmias preceded SUDEP. While our cellular results identified a DS patient with electrocardiographic (ECG) abnormalities, the translational relevance of these results remains unknown. We will perform detailed ECG analysis in two severe forms of epilepsy (DS & Lennox-Gastaut Syndrome, LGS). We will perform detailed ECG analytics during specific non-seizure physiological states and investigate the temporal evolution of these measures leading up to and following a seizure. As cardiac arrhythmias provide one possible cause for SUDEP, we will demonstrate the prevalence and conditions for cardiac electrical abnormalities in DS and LGS, which will foster the future development and validation of ECG markers for cardiac-mediated SUDEP risk in DS patients.

About the Investigator: Dr. David Auerbach is an Assistant Professor of Pharmacology at SUNY Upstate Medical University. He has shown that it is important to take a multi-system approach to studying electrical diseases of both the brain and heart. He is actively investigating the prevalence, risk factors, and mechanisms for the multi-system cascade of events that lead to Sudden Unexpected Death in Epilepsy Patients (SUDEP).

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