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4-Phenylbutyrate Rescue in <i>GABRA1</i> Variants Associated with Developmental Epileptic Encephalopathies: from Cell and Mouse Models to Human

2026-05-22

Abstract excerpt

Disease variants in GABR genes encoding γ-Aminobutyric acid type A receptor (GABA A R) subunits are major causes of developmental and epileptic encephalopathies (DEEs). There is no effective treatment for these DEEs although the GABA A R is a major target for antiseizure drugs. We previously identified the therapeutic effect of 4-phenyl-butyrate (PBA) in Gabrg2 +/Q390X knockin DEE mice and now test the effect...

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Literature Corpus work
a2fc9875-d17d-59bd-97fb-3327cda682a4
DOI
10.64898/2026.05.20.724359
Open publication

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4-Phenylbutyrate Rescue in <i>GABRA1</i> Variants Associated with Developmental Epileptic Encephalopathies: from Cell and Mouse Models to HumanDOI 10.64898/2026.05.20.724359
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