Journal of Child Neurology· 2026Q2

Phenylbutyrate-Responsive SLC6A1 -Related Neurodevelopmental Disorder Associated With a Familial Variant

Odette El Ghawi, Eniya Beemarajan, Debopam Samanta, Praveen Kumar Ramani

0citations
Q2SCImago
2026year

Short summary

Glycerol phenylbutyrate (GPB) achieved complete seizure freedom and reduced epileptiform discharges in a proband with SLC6A1-related neurodevelopmental disorder, a synaptopathy caused by impaired GABA transporter-1 (GAT-1) function.

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BiochemistryBiochemistry, Genetics and Molecular Biology