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
Proteostasis regulation of GABAA receptors in neuronal function and disease.
Chen X et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Rodent models of genetic epilepsy and its association with neurocognitive impairment- a systematic review.
Foo RYN et al.
Frontiers in Pharmacology, 2025
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 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
GABAA Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.
Nwosu GI et al.
International Journal of Molecular Sciences, 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
35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1
Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.
Nwosu G et al.
International Journal of Molecular Sciences, 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
Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.
Kang JQ
International Journal of Molecular Sciences, 2021
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Shi YW et al.
Brain : a Journal of Neurology, 2019
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