Kirill A. Zavalin

This study tests the therapeutic effect of 4-phenylbutyrate (PBA) on GABRA1 variants associated with developmental epileptic encephalopathies using cell and mouse models, showing improved receptor expression and function.

The paper shows that SLC6A1 mutations cause GABA accumulation and impaired neurotransmission in mice, which are rescued by 4-phenylbutyrate.

This study shows that Shh signaling regulates stellate cell pool size in the cerebellum, which is critical for dendritic inhibition and motor learning.