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4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients

31 Jan 2025

Abstract excerpt

Haploinsufficient deletions of GABA transporter 1 (GAT-1)- encoding SLC6A1 , and GABA transporter 3 (GAT-3)-encoding SLC6A11 are implicated in epileptic syndromes. Despite their significance, the impact of these deletions has not been characterized. Our previous work on SLC6A1 missense mutations prompted a clinical trial for Ravicti (NCT04937062), a glycerol formulation of 4-phenylbutyrate (PBA), for...

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PMID: 39923323
DOI: 10.1016/j.eplepsyres.2025.107514

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