Epileptiform activity in brain organoids derived from patient with Glucose Transporter 1 Deficiency Syndrome.

Introduction: Glucose Transporter 1-Deficiency Syndrome (GLUT1-DS) is a rare genetic disorder caused by mutations in the gene encoding for GLUT1 and characterized by impaired glucose uptake in the brain. This leads to brain hypometabolism and the development of symptoms that include epilepsy, motor dysfunctions and cognitive impairment. The development of patient-specific models is a valuable tool for understanding the pathophysiology of rare genetic disorders and testing new therapeutic interventions.