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Review Open access Oct 2026

Pediatric, Rare Neurometabolic, and Paroxysmal Movement Disorders

Objective: To present a new case of glucose transporter type 1 de fi - ciency syndrome (GLUT1-DS) diagnosed in adulthood and to describe the associated radiological fi ndings. Background: Glucose transporter type 1 de fi ciency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene, r...

C. Clopés, Y. Domínguez, J. B. V. Azquez et al. · 0 citations

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