Associated Papers
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons.
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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 › Sheet1
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
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Supplement: mmc1.xlsx › In_silico_scores
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
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