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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Ria S. Eda

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2 papers indexed here

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Open access Oct 2026

Functional characterization and pharmacochaperone rescue of a novel SLC6A1 variant associated with developmental epileptic encephalopathies

Mutations in SLC6A1 , encoding the γ-aminobutyric acid (GABA) transporter 1 (GAT-1), are associated with a spectrum of neurodevelopmental disorders, including epilepsy syndromes, intellectual disability (ID), and autism. An important question is whether the impact of these mutations can be predicted at scale usin...

Ziang Song, Melissa B. DeLeeuw, Despoina Mandelenaki et al. · 0 citations
Open access Jul 2026

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans

This study indicates that PBA is a promising treatment option for DEEs associated with GABRA1 mutations and proposes that PBA holds promise as a common medicine for multiple genetic neurologic disorders that share the proteostasis pathology with a broad clinical application in DEEs.

Ziang Song, Kirill Zavalin, W. Shen et al. · 0 citations

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