Associated Papers
Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up.
Hua R et al.
Italian Journal of Pediatrics, 2025
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
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA et al.
Ebiomedicine, 2024
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
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Lin SXN et al.
Brain : a Journal of Neurology, 2024
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
The epilepsy-movement disorder phenotypic spectrum and phenytoin-induced dyskinesia associated with GABRB3 pathogenic variants.
Marefi A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Sanchis-Juan A 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
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
Štěrbová K et al.
Neuropediatrics, 2018
GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.
Hernandez CC et al.
Scientific Reports, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS et al.
Neurology, 2017
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Unknown Author
American Journal of Human Genetics, 2016