The GABAAγ2(R43Q) Mouse Model of Human Genetic Epilepsy

Abstract

Abstract 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 ..