Jing-Qiong Kang

Nov 29, 2024 | biorxiv.org | Marnie Williams |Ya-Juan Wang |Jing-Qiong Kang |Tingwei Mu

AbstractThe gamma-aminobutyric acid type A receptor (GABAAR) is the most common inhibitory neurotransmitter-gated ion channel in the central nervous system. Pathogenic variants in genes encoding GABAAR subunits can cause receptor dysfunction and lead to genetic epilepsy. Frameshift variants in these genes can result in a premature termination codon, producing truncated receptor subunit variants.