Chapter

The GABA<sub>A</sub>γ2(R43Q) Mouse Model of Human Genetic Epilepsy

Steven Petrou and Christopher A. Reid

in Jasper's Basic Mechanisms of the Epilepsies

Fourth edition

Published on behalf of ©Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Richard W. Olsen, and Antonio V. Delgado-Escueta

Published in print July 2012 | ISBN: 9780199746545
Published online April 2013 | e-ISBN: 9780199322817 | DOI: http://dx.doi.org/10.1093/med/9780199746545.003.0056

Series: Contemporary Neurology Series

The GABAAγ2(R43Q) Mouse Model of Human Genetic Epilepsy

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Epilepsy is a complex disease of neuronal networks; therefore, an understanding of the consequences of genetic dysfunction at clinically relevant temporal and spatial scales requires in vivo models. Although in vitro models have and will continue to shed light on aspects of molecular pathogenesis, gaining knowledge of the effects of mutations on the emergent properties of brain networks is critical if we are to fully understand disease genesis. Genetically modified animal models provide an avenue to investigate disease mechanisms of human mutations at this level of organization. Genetically engineered knockin models, in which the human epilepsy mutation is integrated into the mouse genome and replaces the endogenous allele, are potentially one of the most useful in vivo models for understanding epileptogenesis in genetic epilepsy. These mouse models most closely replicate the human genetic disorder and are becoming the gold standard for investigating the mechanisms underlying specific human epilepsy syndromes.

Chapter.  3520 words.  Illustrated.

Subjects: Neurology

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