Tonic inhibition in the brain is mediated through an activation of extrasynaptic GABAA
receptors by the tonically released GABA, resulting in a persistent GABAergic inhibitory …

Autism spectrum disorder (ASD) is a highly heritable, clinically diverse group of
neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 …

The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or
duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome …

Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with
seizures, developmental delay, ataxia, and lack of speech. Previous studies have indicated …

Background Clinicians have qualitatively described rhythmic delta activity as a prominent
EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be …

Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by
either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which …

The past decade has yielded much success in the identification of risk genes for Autism
Spectrum Disorder (ASD), with many studies implicating loss-of-function (LoF) mutations …

Genetic alterations of the maternal UBE3A allele result in Angelman syndrome (AS), a
neurodevelopmental disorder characterized by severe developmental delay, lack of speech …

Half a century ago, Harry Angelman reported three patients with overlapping clinical
features, now well known as Angelman syndrome. Angelman syndrome is caused by …

E3 ubiquitin ligase (UBE3A) levels in the brain need to be tightly regulated, as loss of
functional UBE3A protein is responsible for the severe neurodevelopmental disorder …