Wangzhen Shen

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

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.

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

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

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.

4-phenylbutyrate restored GABA uptake and reduced seizures in SLC6A1 variants-mediated disorders

This study shows that 4-phenylbutyrate (PBA) improves GABA uptake and reduces seizures in SLC6A1 mutation-related disorders by enhancing wildtype GAT-1 trafficking.