Neurophysiological Outcomes in a Preclinical Model of Ube3a Overexpression and Dup15q Syndrome
Poster Presentation
Thursday, May 2, 2019: 5:30 PM-7:00 PM
Room: 710 (Palais des congres de Montreal)
N. A. Copping1 and J. L. Silverman2, (1)UC Davis, Sacramento, CA, (2)MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA
Background:
Copy number variants (CNV) are among the most common genetic causes of autism spectrum disorders (ASD), with 10-20% of cases resulting from one or more CNVs. Maternally derived duplications or triplications of 15q11.2-q13 (Dup15q syndrome) are the most penetrant CNV observed in ASD, accounting for up to ~3% of ASD cases (Glessner et al., 2009; Pinto et al., 2010). Dup15q syndrome, as a genetically defined subtype of ASD, also shares the core transcriptomic signature observed in idiopathic ASD (Ohta et al., 2015). Characteristic features of Dup15q syndrome are moderate to severe intellectual disability, seizures, hypotonia, speech impairments, anxiety, impaired motor coordination, and ASD (Cook et al., 1997; Bolton et al., 2001; Hogart et al., 2010; Urraca et al., 2013; Conant et al., 2014; Finucane BM et al., 2016). We and others postulate that overexpression of the E3 ubiquitin ligase gene (UBE3A), a critical gene in this region, contributes to the Dup15q syndrome phenotype.
Objectives:
To examine neurophysiology by electroencephalographic (EEG) for spiking events in our Ube3aoverexpression model system.
To investigate EEG characteristics such as epileptiform activity, total spectral power, and spectral power by band width frequency that are translationally relevant and observed in the Dup15q clinical population (e.g., high beta power measured in children with Dup15q).