Altered GABAA receptor subunit expression and pharmacology in human Angelman syndrome cortex
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2019, Brain ResearchCitation Excerpt :Finally, mutations in the β3 subunit of the GABAA receptor are also associated with SWDs. And again, the emerging picture indicates that β3 subunit mutations reduce the number of functional GABAA receptors and, generally, reduce inhibition (Jones-Davis and Macdonald, 2003; Huntsman et al., 1999; Roden et al., 2010). In contrast to the aforementioned, loss-of-function mutations in the GABAA receptor, T-Type Ca2+ channel mutations associated with absence epilepsy lead to a gain of function.
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model
2017, NeuropharmacologyCitation Excerpt :Consequently, clinical trials are warranted. In addition, our results are consistent with other work (Roden et al., 2010) suggesting that positive modulators of extrasynaptic GABAA receptors might in general provide unique symptomatic benefits in AS. Investigation of other extrasynaptic GABAA receptors’ active agents including gaboxadol will be of interest.
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