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Article

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

Cells - 24 Jul 2026

Song Ziang Debbie, Zavalin Kirill, Shen Wangzhen, DeLeeuw Melissa B, Hunn Genevieve X, Eda Ria S, Ma Li, Wang Juexin, Kang Jing-Qiong

Abstract excerpt

Disease variants in GABR genes encoding γ-aminobutyric acid type A receptor (GABAAR) subunits are major causes of developmental and epileptic encephalopathies (DEEs). There is no effective treatment for these DEEs, although the GABAAR is a major target for antiseizure drugs. We previously identified the therapeutic effect of 4-phenylbutyrate (PBA) in Gabrg2+/Q390X knockin DEE mice and in this study tested the...

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Source

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Identifiers

PMID: 42587736
DOI: 10.3390/cells15151327
PMCID: PMC13465587

Genes

GABRA1
GABRG2
SLC6A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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