Products/Services Used | Details | Operation |
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PCR Cloning and Subcloning> | … Wild-type and variant β3 subunits designed for cloning into the X position were purchased from GenScript (Singapore). A total of 54 β3 subunit variants were made, verified by … | Get A Quote |
Many patients with developmental and epileptic encephalopathies present with variants in genes coding for GABA receptors. These variants are presumed to cause loss-of-function receptors leading to reduced neuronal GABAergic activity. Yet, patients with GABA receptor variants have diverse clinical phenotypes and many are refractory to treatment despite the availability of drugs that enhance GABAergic activity. Here we show that 44 pathogenic GABRB3 missense variants segregate into gain-of-function and loss-of-function groups and respective patients display distinct clinical phenotypes. The gain-of-function cohort (n = 27 patients) presented with a younger age of seizure onset, higher risk of severe intellectua... More