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
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
Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Yang Y et al.
Developmental Medicine and Child Neurology, 2020
Identification of somatic alterations in lipoma using whole exome sequencing.
Kanojia D et al.
Scientific Reports, 2019
31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_3
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF et al.
Plos One, 2017
28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1
Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
Hernandez CC et al.
Plos One, 2016
Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
Hernandez CC et al.
Plos One, 0
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