Associated Papers
Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.
Tian X et al.
Pediatric Research, 2026
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 › Sheet3
GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.
Zhu X et al.
Journal of Child Neurology, 2024
Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.
Hernandez CC et al.
Biomolecules, 2023
Pathogenicity Prediction of GABAA Receptor Missense 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
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Y et al.
Journal of Neurology, 2022
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL et al.
Nature Communications, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
Pavone P et al.
Molecular Genetics & Genomic Medicine, 2020
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Shi YW et al.
Brain : a Journal of Neurology, 2019
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
A mutation in GABRB3 associated with Dravet syndrome.
Le SV et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS et al.
Neurology, 2017
Select a paper to view details