Cortical microarchitecture changes in genetic epilepsy

Neurology
Verena C WimmerSteven Petrou

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.

Citations

Dec 15, 2018·The Journal of Physiology·Florian StuderAntoine Depaulis
Jul 20, 2019·Neurology. Genetics·Mangor PedersenGraeme D Jackson
Nov 28, 2017·Brain : a Journal of Neurology·Istvan AdorjanFrancis G Szele
Nov 23, 2017·Frontiers in Cellular Neuroscience·Silvia Sánchez-Ramón, Florence Faure

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