Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome.

ABSTRACT:

Background

Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-specific loss of expression of UBE3A (ubiquitin-protein ligase E6-AP), an imprinted gene. Seizure and sleep disorders are highly prevalent (> 80%) in the AS population. The present experiments were designed to identify translational, neurophysiological outcome measures in a model of AS.

Methods

We used the exon-2 deletion mouse (Ube3a-del) on a C57BL/6J background to assess seizure, sleep and electrophysiological phenotypes. Seizure susceptibility has been reported in Ube3a-del mice with a variety of seizure induction methods. Here, we pr

SUBMITTER: Copping NA 

PROVIDER: S-EPMC7866697 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature