[HTML][HTML] Electrophysiological phenotype in Angelman syndrome differs between genotypes

J Frohlich, MT Miller, LM Bird, P Garces, H Purtell… - Biological …, 2019 - Elsevier
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
encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3,
encoding gamma-aminobutyric acid type A receptor subunits (β 3, α 5, γ 3). Individuals with
deletions are generally more impaired than those with other genotypes, but the underlying
pathophysiology remains largely unknown. Here, we used electroencephalography (EEG) to …