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O. El Ghawi

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Open access Sep 2026

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

SLC6A1-related neurodevelopmental disorder is a synaptopathy characterized by developmental delay, epilepsy, and neurobehavioral manifestations with marked phenotypic variability. Variants impair γ-aminobutyric acid (GABA) transporter-1 (GAT-1) folding and trafficking, reducing inhibitory neurotransmission and promotin...

O. El Ghawi, Eniya Beemarajan, Debopam Samanta et al. · 0 citations

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