Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice of SLC6A1 Variant-Mediated Disorders
Kirill A. Zavalin, Karishma Randhave, Marshall Biven, Wangzhen Shen, Jing‐Qiong Kang
The paper shows that SLC6A1 mutations cause GABA accumulation and impaired neurotransmission in mice, which are rescued by 4-phenylbutyrate.
bioRxiv · Jan 21, 2026 · PreprintNeuroscience