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 › Sheet2
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C et al.
Brain : a Journal of Neurology, 2025
Missense variants in GABAA receptor beta2 subunit disrupt receptor biogenesis and cause loss of function.
Chen X et al.
Biorxiv : the Preprint Server for Biology, 2025
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA et al.
Ebiomedicine, 2024
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
38014242 (PubMed )
Supplement: media-2.xlsx › b2_CV-AM-RS
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM et al.
Annals of Neurology, 2021
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