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Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice of <i>SLC6A1</i> Variant-Mediated Disorders

2026-01-21

Abstract excerpt

Mutations in SLC6A1 encoding GABA transporter 1 are a leading monogenic cause of developmental and epileptic encephalopathies, severe neurodevelopmental disorders lacking effective treatments. We previously demonstrated that 4-phenylbutyrate restored molecular and functional deficits, and reduced seizures in a Slc6a1 loss-of-function mouse, motivating a promising ongoing clinical trial. Here, we show this mouse...

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Literature Corpus work
c4fed8fe-a30a-53ae-bbd4-29dd3be2615b
DOI
10.64898/2026.01.20.700615
Open publication

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Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice of <i>SLC6A1</i> Variant-Mediated DisordersDOI 10.64898/2026.01.20.700615
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