Associated Papers
Improving Proteostasis of Trafficking-Deficient GABAA Receptor Variants by Activating IRE1.
Fu X et al.
Acs Chemical Neuroscience, 2025
Understanding paralogous epilepsy-associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls.
Kan ASH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Pharmacological Research, 2024
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
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
The endoplasmic reticulum membrane complex promotes proteostasis of GABAA receptors.
Whittsette AL et al.
Iscience, 2022
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
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.
Sun D et al.
Frontiers in Pediatrics, 2021
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H et al.
Epilepsia, 2016
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