Investigators Workshop | Somatic Genetics of Neocortical Epilepsy: SLC35A2

Sunday, December 5, 2021
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OVERVIEW:

This session investigates the impact of SLC35A2 on non-lesional neocortical epilepsy (NLNE), a difficult-to-treat epileptic disorder.  

Patients with non-lesional neocortical epilepsy (NLNE) provide unique challenges for both medical therapy and pre-surgical evaluation and exhibit a worse post-operative seizure freedom rate. Conceptualizing how a focal area of the neocortex evolves into an epileptic network in the absence of a lesion is challenging. Somatic variants in the galactose transporter SLC35A2 have been identified in resected NLNE specimens, providing a paradigm shift in understanding NLNE.  

This session highlights:  

  1. Somatic genetic data on SLC35A2 in NLNE 
  2. A review of phenotypic presentations in these cases 
  3. A report of in vitro/in vivo studies showing how SLC35A2 variants lead to seizures 
  4. A discussion of  genomic strategies to investigate NLNE 

Learning Objectives:

Following participation in this activity, participants will be able to: 

  • Define how somatic gene mutations occur during brain development, how they are distributed in the neocortex, and how genomics technologies can be used to discover even low frequency alleles 
  • Provide a comprehensive analysis of the phenotypic features of SLC35A2-associated NLNE 
  • Define how variants in SLC35A2 and other candidate variants might cause altered neuronal firing, synaptic connectivity, and network integrity in NLNE 

Program:

Moderators: Peter B. Crino, MD, PhD 

Speakers: Erin Heinzen, PharmD, PhD,  Melodie R. Winawer, MD, MS, Annapurna Poduri, MD, MPH, FAES, and Philip Iffland, PhD

Activity Type
Investigators Workshop
Credit
Non-CME
Format
In person
Career Stage
Early Career (typically 0-5 years from completion of training)
Mid-Career (typically 6-15 years from completion of training)
Senior (typically >15 years from completion of training)
Audience
Clinicians
Fellows/Trainees
Scientists/Researchers
Demographic
Clinical
Research