Cortical microarchitecture changes in genetic epilepsy
Verena C Wimmer, Melody Y-S Li, Samuel F Berkovic, Steven Petrou
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015
OBJECTIVE: 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. METHODS: 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) ..View full abstract
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Awarded by National Health and Medical Research Council Australia (NHMRC)
Awarded by NMHRC
This work was supported by the National Health and Medical Research Council Australia (NHMRC, grants 400121 and 1030016) and NMHRC fellowship 1005050 to S.P. The Florey Institutes of Neuroscience and Mental Health are supported by Victorian State Government infrastructure funds.