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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
Sep 2026

Neuroimaging Findings in Three Patients with Juvenile Huntington's Disease.

A case series highlights the clinical and neuroimaging features of three genetically confirmed pediatric patients with JHD from the same family, providing new insight into the phenotypic variability and also demonstrates the less commonly described imaging observations of JHD.

Leena Elayan, K. Arya, Sateesh Jayappa et al. · 0 citations

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