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Session Title: Epilepsy Genetics: Bringing Basic Science to the Clinic

Description: Speakers will discuss the epilepsy genetics from preclinical research to clinical applications. Preclinical research focused on the development of antisense oligonucleotide therapy, precision medicine in rare genetic disorders, somatic variants in the brain and non-monogenetic epilepsy will be discussed. Finally, we will discuss the utilization of genetics in clinical practice.

Chair: Kathryn Davis, MD, MS, FAES, University of Pennsylvania

Co-Chair: Chloe Hill, MD, MS, University of Michigan

Objective(s): 

• Utilize genetics data in epilepsy patients
• Understand ongoing ASO genetic trials
• Understand how to diagnose and treat patients with underlying genetic causes of their epilepsy

Presentations:

Dancing to a Different Tune: TANGO Gives Hope for Dravet Syndrome

Speaker:

Lori Isom, PhD

University of Michigan, Medical School

Pv+ Interneurons Are Non-Cell Autonomously Dysregulated in Depdc5-Associated Epilepsies

Oral Presenter:

Tao Yang, PhD

University of Michigan, Department of Neurology

Precision Diagnosis in Epilepsy--a First Step Toward Precision Medicine

Speaker:

Ann Poduri, MD, MPH

Boston Children's Hospital, Harvard Medical School

Non-cell Autonomous Hyperexcitability Underlies Focal Epileptogenesis Mediated by Low-level Brain Somatic Mutations in Mtor

Oral Presenter:

Hyunyong Koh, MD, PhD

Boston Children's Hospital

Genetics in the Clinic: Beyond Monogenic Epilepsies

Speaker: 

Colin Ellis, MD

University of Pennsylvania