New paper from Dr. Juan Pascual
A groundbreaking paper from Dr. Juan Pascual and team summarizing some of the findings from years of studying Glut1 Deficiency. It seems brain energy failure isn’t the problem in this disease as has long been thought, but rather low glucose as the root problem and the many metabolic implications downstream that causes. He has also found that the disturbances in the brain caused by Glut1 Deficiency are largely isolated to the thalamus where increased excitability and failure to inhibit this extra electrical activity lead to seizures through the thalamus/sensorimotor cortex circuit.
These findings help open up avenues to investigate new and targeted treatments, and this paper is another shift that helps open new areas of research for our disease.
Much gratitude to Dr. Pascual, his team, his patients, and the donors who help us support his work for helping make this kind of progress possible.