Publication alert 📢 The genetic and phenotypic spectrum of #GABRB1-related disorders 🧠
We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️
academic.oup.com/brain/advanc...
Millevert et al. studied genetic variants in the GABRB1 gene associated with epilepsy. Analysis of functional effects and clinical data from 19 individuals