Ya-Juan Wang

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.

Nov 16, 2023 | biorxiv.org | Ya-Juan Wang |Giang Vu |Tingwei Mu

AbstractVariants in the genes encoding the subunits of gamma-aminobutyric acid type A (GABAA) receptors are associated with epilepsy. To date, over 1000 clinical variants have been identified in these genes. However, the majority of these variants lack functional studies and their clinical significance is uncertain although accumulating evidence indicates that proteostasis deficiency is the major disease-causing mechanism for GABAA receptor variants.