Date/Time: Saturday, October 16, 2021 - 5:00 PM – 7:00 PM
Track: Plenary Session
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Description:

The explosion of genome sequence information in recent years has illuminated a growing list of gene associations with epilepsy. Many genetic variants are familial or arise as de novo changes in an individual and may be of uncertain impact on gene function. These variants of uncertain significance (VUS), though they may occur in a gene that is consistent with an individual patient’s seizure phenotype, require critically important molecular investigation for establishing seizure causality. Epileptogenic mutations may arise in voltage-gated channels, neurotransmitter receptors, or several classes of synaptic function regulators. This symposium provides an update regarding recent frontiers in understanding and modulating epileptic mechanisms ranging from the surprising etiology of drug-resistant, brain tumor driven seizures, to the role of mutations in intergenic regions that generate poison exons that can be targeted with ASOs, to the use of reprogrammed stem cell-derived human neurons toward the repurposing of drugs for individualized treatment.

Chair: Frances E. Jensen, MD, FACP

Co-Chair: M. Elizabeth Ross, MD, PhD

Objective(s):

• Consider novel mechanisms leading to epilepsy and expand the traditional landscape of pathogenesis that will improve diagnostic capabilities

• Avoid the presumption in the absence of functional testing that a variant of uncertain significance (VUS) is disease causing

• Understand the need to interrogate not only protein coding regions but also the whole genome to find pathogenic mutations and the importance of functional testing of VUSs in neurogenetic diagnoses.