Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene

We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the SLC2A1 gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period.

Source: Journal of Pediatric Neurosciences - February 25, 2019 Category: Neuroscience Authors: Tullio Messana Angelo Russo Raffaella Vergaro Antonella Boni Margherita Santucci Antonella Pini Source Type: research