Associated Papers
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons.
Arslan A et al.
Journal of Visualized Experiments : Jove, 2025
40549733 (PubMed )
Supplement: R_Supplementary20File204_11_May_2025.zip › R_Supplementary_File_4_11_May_2025 › Supplementary_Table_S7_R.xlsx › Sheet4
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Pharmacological Research, 2024
39216838 (PubMed )
Supplement: NIHMS2024199-supplement-3.xlsx › Table_S1
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.
Arslan A
Heliyon, 2023
37809401 (PubMed )
Supplement: mmc1.xlsx › Sayfa1
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
37131660 (PubMed )
Supplement: media-2.xlsx › Table_S1
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