Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.

Affiliation

Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center, Roche Pharma Research and Early Development, Basel, Switzerland; Center for Autism Research and Treatment, Semel Institute for Neuroscience, University of California, Los Angeles, Los Angeles. Electronic address: [Email]

Abstract

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 (β3, α5, γ3). 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 test the hypothesis that genes other than UBE3A located on 15q11-q13 cause differences in pathophysiology between AS genotypes.

Keywords

Angelman syndrome,Biomarkers,EEG,GABA,GABRB3-GABRA5-GABRG3 gene cluster,UBE3A,