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
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
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
De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects.
Liu WH et al.
Frontiers in Molecular Neuroscience, 2023
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY et al.
Epilepsia, 2022
35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Clinical phenotype and genotype of children with GABAA receptor α1 subunit gene-related epilepsy.
Zhang L et al.
Frontiers in Neurology, 2022
De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H et al.
Epilepsia, 2016
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL et al.
Neurology, 2014
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