Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression.

ABSTRACT: Angelman syndrome (AS) is a neurodevelopmental disorder arising from loss-of-function mutations in the maternally inherited copy of the UBE3A gene, and is characterized by an absence of speech, excessive laughter, cognitive delay, motor deficits, and seizures. Despite the fact that the symptoms of AS occur in early childhood, behavioral characterization of AS mouse models has focused primarily on adult phenotypes. In this report we describe juvenile behaviors in AS mice that are strain-independent and clinically relevant. We find that young AS mice, compared with their wild-type littermates, produce an increased number of ultrasonic vocalizations. In addition, young AS mice have defects in motor coordination, as well as abnormal brain activity that results in an enhanced seizure-like respo

SUBMITTER: Mandel-Brehm C 

PROVIDER: S-EPMC4413330 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature