Abstract
GABAA receptors (GABAARs) are Cl−-selective ligand-gated ion channels that mediate both fast synaptic inhibition and persistent tonic inhibition in the CNS. The receptor is composed of subunits that affect biophysical and pharmacological properties of the channel. A growing number of studies have examined copy number variations, mutations, and polymorphisms in genes encoding GABAAR subunits and found that changes in subunit function and expression are linked to a variety of neurological disorders. GABAARs are targets for a wide range of pharmaceutical agents including benzodiazepines, barbiturates, general anesthetics, and neurosteroids. It remains to be fully determined how genetic variations in GABAA subunits affect clinical pharmacology. Conversely, there is growing interest in the use of GABAergic drugs to treat disorders with an etiology arising from genetic variations in GABAA subunits.
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