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J. V. D. van der Vegt

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Open access Sep 2026

Drug repurposing of glycerol phenylbutyrate for children with SLC6A1-related neurodevelopmental disorder: A prospective open-label case series.

BACKGROUND SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by intellectual disability, epilepsy, and behavioral difficulties. It is caused by pathogenic variants in SLC6A1, encoding the GABA transporter protein 1 (GAT1). Glycerol phenylbutyrate increases GAT1 expression in preclinical models an...

E. V. van Walree, D. Dekker, J. J. Sprengers et al. · 0 citations

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