Over the past decade, a genomic revolution has unfolded in medicine, and the epilepsy space is no exception. The intricacies presented by the diverse array of epilepsy syndromes and the highly variable inter-individual responses to therapies create considerable challenges in disease management.

With advancements in DNA sequencing revealing a genetic component in over 30% of epilepsy syndromes, genetic testing now plays a crucial role in confirming clinical diagnoses, predicting disease prognosis, and guiding treatment decisions. Tailoring medication choice to an individual’s genetic makeup aims to not only lessen seizure burden, but also improve the patient’s comorbidities and quality of life. Ongoing research is dedicated to developing therapies that directly address and correct the genetic variants responsible for the disease, while simultaneously unraveling the underlying mechanisms and pharmacogenomics of individual epilepsies.

In this podcast, join us as Guido Rubboli, MD; Simona Balestrini, MD, PhD; Reetta Kälviäinen, MD, PhD; and Kristen Park, MD, share their invaluable perspectives on the cutting-edge advancements in precision medicine for epilepsy. Together, they unravel key advances, including the use of pharmacogenomics for decision making, the development of gene therapies, and the role of gene modifiers in phenotypic expression.