Insights Into Molecular Mechanisms

Date/Time: Tuesday, October 6, 2020 - 12:15 PM – 2:15 PM
Track: Plenary Session
Room: San Francisco
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Description:

The recent explosion of genomic information has illuminated a growing list of gene mutation associations with epilepsy. Many of these arise as de novo changes in an individual, making molecular diagnoses critically important for investigation of epilepsy, whether familial or sporadic. 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 antisense oligonucleotides (ASOs), to the use of patient derived reprogrammed neurons toward repurposing drugs for individualized treatment.

Chair: M. Elizabeth Ross, MD, PhD, Weill Cornell Medicine
Co-chair: Frances Jensen, MD, University of Pennsylvania 

Objective(s):

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

  • Advance appreciation of potential for new approaches to treatment of epilepsy and neurobehavioral disorders 

  • Underscore 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 

Speaker(s):

Aberrant Inclusion of Poison Exons leads to Premature Truncation of Ion Channels in Epilepsy


Antisense Oligonucleotides Increase Scn1a Expression and Reduce Seizures and SUDEP Incidence in a Mouse Model of Dravet Syndrome


Speaker(s):

Human Brain Organoids for Probing Mechanisms Toward Individualized Treatment of Epilepsy and Behavioral Disorders


The Birth of Hyperexcitability in the Glioma Peritumoral Microenvironment