Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12669
Title: Cortical microarchitecture changes in genetic epilepsy.
Austin Authors: Wimmer, Verena C;Li, Melody Y-S;Berkovic, Samuel F ;Petrou, Steven
Affiliation: From The Florey Institute of Neuroscience and Mental Health (V.C.W., M.Y.-S.L., S.P.) and Centre for Neuroscience (S.P.), University of Melbourne; and Epilepsy Research Centre and Department of Medicine (S.F.B.), University of Melbourne, Austin Health, Australia
Issue Date: 4-Mar-2015
Publication information: Neurology 2015; 84(13): 1308-16
Abstract: The human GABAAγ2(R43Q) mutation is associated with genetic epilepsy. Because of the role of γ-aminobutyric acid (GABA) in brain development, we asked whether this epilepsy mutation might affect excitability by changing cortical cytoarchitecture.We used a mouse model harboring a heterozygous R43Q missense mutation in the GABAA receptor subunit γ2, as identified in a family with absence epilepsy and febrile seizures. Three-dimensional quantification of immunostained neurons (NeuN), inhibitory neurons (GABA), and inhibitory neuron subpopulations (calretinin, parvalbumin, and calbindin) was performed in fiducial somatosensory cortical columns of seizure-naive GABAAγ2(R43Q) and control mice.Of note, the densities of GABA-, calretinin-, parvalbumin-, and calbindin-containing neurons were increased, and somewhat perplexing, the ratio between putative excitatory and inhibitory neurons was decreased in GABAAγ2(R43Q) mice. Differences were detected in a layer-specific manner with greater overall effects in layers 2/3, 5, and 6, as compared with layers 1 and 4.Our results suggest that the γ2(R43Q) mutation significantly affects cortical microcircuitry in the cortex of this model of human genetic epilepsy.
Gov't Doc #: 25740860
URI: http://ahro.austin.org.au/austinjspui/handle/1/12669
DOI: 10.1212/WNL.0000000000001415
URL: https://pubmed.ncbi.nlm.nih.gov/25740860
Type: Journal Article
Appears in Collections:Journal articles

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