Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

Abstract

Mutations in GABRB3, which encodes the β3 subunit of GABAA receptors, cause variable epilepsy syndromes with autism and intellectual disability. Shi et al. report that mutant β3 subunits reduce expression of wildtype γ2 subunits, which are critical for receptor synaptic clustering. However, they do so to different degrees, contributing to disease heterogeneity.