Abstract
Human genetic epilepsies are frequently caused by mutations in the GABA type-A receptor (GABAAR), an essential mediator of inhibitory neurotransmission in the brain. The largest number of mutations causing severe forms of epilepsy is discovered in the GABAAR β3 subunit, which plays an important role in the early stages of brain development. Yet it is not clear how these mutations perturb neuronal activity. Here, we compared the expression and functional impact of β3G32R, associated with mild epilepsy, to β3N110D, β3D120N and β3E180G which are implicated in more severe forms of the disease.
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