David Auerbach, PhD- The Research Foundation for SUNY/Upstate Medical University
Award Supplement for Genetic Substrates and Physiological Triggers for Autonomic and Cardiac Abnormalities in Dravet Syndrome
Supplemental Award to a 2022 Clinical Research Grant: 1 year – $100,000
Grant Summary from the Investigators:
People with Dravet Syndrome (DS) are at a high risk of Sudden Unexpected Death in Epilepsy (SUDEP). 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. Prolongation of the cardiac electrical activation-recovery interval (QTc interval) is a substrate and marker for an increased risk of arrhythmias. We showed that the QTc interval is significantly longer and there is a higher prevalence of clinically defined QTc prolongation in people with DS, compared to healthy controls and two other severe forms of epilepsy. In this study we are looking deeper into the substrates (clinical characteristics & medications) and triggers (physiological state and seizures) for cardiac ECG abnormalities. Additionally, we are performing more detailed analysis of ECG dynamics, which are markers of heart disease and arrhythmias.
About the Investigators:
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).
