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 […]
Receptors, transcripts and proteins: In this week’s roundup, we share new autism research exploring changes in excitatory neurotransmission, altered RNA transcripts and disrupted synaptic networks. In one paper, researchers imaged metabotropic glutamate receptors in autistic people and found “pervasive lower availability across multiple brain regions.” A second study linked functional protein variants to coding mutations […]
