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Topic: De Vivo disease

ePoster
1 ePoster

In Neuroscience

Alteration of myelin gene expression in a mouse model for Glut1 Deficiency Syndrome

Sophie Burlet-Godinot, Daphné Vorburger, Hubert Fiumelli, Maoxue Tang, Umrao Monani, Darryl De Vivo, Jean-Luc Martin, Pierre Magistretti · FENS Forum 2024

Using a mouse model of Glucose Transporter 1 (Glut1) haploinsufficiency which faithfully replicates the core characteristics of De Vivo disease, a human Glut1 Deficiency Syndrome (Glut1DS), we found an early and pronounced decrease in brain glucose, lactate, and glycogen levels. To elucidate the cellular and molecular mechanisms underlying Glut1DS, we conducted an RNA-sequencing analysis on the somatosensory and motor cerebral cortex of a mouse model for Glut1DS.Our analysis revealed 195 up-regulated and 71 down-regulated genes in Glut1-deficient mice compared to wild type controls. Gene set a

ePoster · Neuroscience