Article
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Oct 1998
DeLorey T M, Handforth A, Anagnostaras S G, Homanics G E, Minassian B A, Asatourian A, Fanselow M S, Delgado-Escueta A, Ellison G D, Olsen R W
Abstract excerpt
Angelman syndrome (AS) is a severe neurodevelopmental disorder resulting from a deletion/mutation in maternal chromosome 15q11-13. The genes in 15q11-13 contributing to the full array of the clinical phenotype are not fully identified. This study examines whether a loss or reduction in the GABAA receptor beta3 subunit (GABRB3) gene, contained within the AS deletion region, may contribute to the overall severity...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.