Validation experiment designed to validate causal mechanisms targeting Gabra1, Gabrg2 in Gabra1+/-/Gabrg2+/- mice. Primary outcome: seizure frequency and visual function
Comprehensive phenotypic characterization of double heterozygous knockout mice (Gabra1+/-/Gabrg2+/-) to model the human microdeletion. The study evaluated spontaneous seizure activity, GABAA receptor expression patterns across brain regions using biochemical and imaging approaches, visual function through electroretinography and visual evoked potentials, and optic nerve structure via electron microscopy. This mouse model recapitulated the human phenotype of epilepsy and visual impairment.
EEG monitoring, electroretinography, visual evoked potentials, electron microscopy, immunohistochemistry
Spontaneous seizures, reduced GABAA receptor expression, optic nerve degeneration
Recapitulation of human phenotype
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