Differential molecular and behavioural alterations in mouse models of<i><i>GABRG2</i></i>haploinsufficiency versus dominant negative mutations associated with human epilepsy

Abstract excerpt

Genetic epilepsy is a common disorder with phenotypic variation, but the basis for the variation is unknown. Comparing the molecular pathophysiology of mutations in the same epilepsy gene may provide mechanistic insights into the phenotypic heterogeneity. GABRG2 is an established epilepsy gene, and mutations in it produce epilepsy syndromes with varying severities. The disease phenotype in some cases may be...

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