Brain waves: Excess GABA-A receptor function contributes to the phenotypes seen in children with dup15q syndrome, including autism traits, epilepsy and intellectual disability, according to a new paper. The duplicated stretch of chromosome 15 in people with the syndrome includes several genes, including UBE3A and three GABA-A receptor submit genes. Investigators recorded EEG activity—specifically, they […]
Connecting threads: Transcriptional changes seen in cortical organoids derived from people with dup15q syndrome are consistent with those detected in postmortem brain samples, according to a new study. Affected processes included increased glycolysis, disrupted marker expression and aberrant morphology. Previous work by this research group found parallels between dup15q syndrome and idiopathic autism. The investigators […]
