Glut1 Deficiency Summit

GENERAL SESSIONS:

Electrophysiology

• Jong Rho, MD:  metabolism, circuitry, and epilepsy   UC San Diego   recording
• Mark Beenhakker, PhD:  metabolic signaling of spike wave seizures  University of Virginia   recording
• Jianzhong Su, PhD: source localization of seizures in Glut1 Deficiency  UT Arlington   recording

Glut1 and SLC2A1

• Caroline Pearson, PhD: elucidating the role of GLUT1 in neural progenitors   Weill Cornell   recording  |  summary
• Christina Gurnett, MD, PhD:  high throughput functional testing of variants  Washington University   recording  |   summary
• Maoxue Tang, PhD:  low Glut1 protein and brain dysfunction  Columbia University     summary

Brain Metabolism

• Matthew Gentry, PhD:  metabolic channeling of signaling monosaccharides in the brain...and more   University of Florida   recording
• Hudson Freeze, PhD:  glycosylation   Sanford Burnham Prebys   recording  |  summary
• Prof. Dr. Michél Willemsen:  hexokinase and glucose phosphorylation Radboud University   recording
• Paul Thornton, MD:  targeting blood glucose  Cook Children's   recording

Therapy Development

• Pierre Magistretti, MD, PhD:  Targeting with small molecules neuron-glia metabolic coupling in GluT1 DS  King Abdullah University of Science and Technology   recording
• Umrao Monani, PhD:  gene therapy   Columbia University  summary
• Rajagopal Sekhar, MD:  Reversing brain GLUT1 deficiency in aged mice: The novel role of GlyNAC   Baylor   recording
• Bruce Posner, PhD:  pre-clinical drug discovery at UT Southwestern   UT Southwestern   recording    summary
• Aiman Baig, PhD candidate: pre-clinical in vitro and in vivo validation of GLUT1 Deficiency Syndrome therapeutic leads identified by high throughput and targeted drug screens  University of Ottawa   recording

Closing and Next Steps