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
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: mmc5.pdf
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 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
Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.
Chen W et al.
International Journal of Molecular Sciences, 2022
Clinical phenotype and genotype of children with GABAA receptor α1 subunit gene-related epilepsy.
Zhang L et al.
Frontiers in Neurology, 2022
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.
Farnaes L et al.
Cold Spring Harbor Molecular Case Studies, 2017
De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H et al.
Epilepsia, 2016
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