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Article

4-Phenylbutyrate rescues neurobehavioral phenotypes in SLC6A1-related encephalopathy.

Epilepsy research - 1 Feb 2026

Randhave Karishma, Zavalin Kirill, Kang Jing-Qiong

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), present with seizures and severe comorbidities including cognitive impairment, developmental delay, motor difficulties, and social deficits. Current therapies focus on seizure reduction but do not address the disabling neurobehavioral symptoms. We previously...

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Source

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Identifiers

PMID: 41385967
DOI: 10.1016/j.eplepsyres.2025.107708
PMCID: PMC12978268

Genes

SLC6A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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