Article

4 Phenylbutyrate Plus Gene augmentation: A Dual Therapy To Rescue of SLC6A1 Variant Associated Developmental And Epileptic Encephalopathy

2026-06-10

Abstract excerpt

<h4>Background</h4> Pathogenic variants in SLC6A1, which encodes the γ-aminobutyric acid (GABA) transporter GAT-1, cause developmental and epileptic encephalopathies (DEEs) through reduced GABA uptake, impaired transporter trafficking, and functional haploinsufficiency. 4-Phenylbutyrate (PBA) is a clinically available small molecule with chemical-chaperone and histone-deacetylase-inhibitor activities that can res...

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Literature Corpus work: 0f4b2c12-a2b9-568f-8b2d-bd4017c45b39
DOI: 10.64898/2026.06.05.730491

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