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
Proteostasis regulation of GABAA receptors in neuronal function and disease.
Chen X et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
GABAA Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.
Nwosu GI et al.
International Journal of Molecular Sciences, 2023
Heterozygous GABAA receptor β3 subunit N110D knock-in mice have epileptic spasms.
Qu S et al.
Epilepsia, 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
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
Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors.
Wang M et al.
Cell & Bioscience, 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
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
GABAA receptor β3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice.
Qu S et al.
Brain Communications, 2020
Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic.
Absalom NL et al.
The Journal of Biological Chemistry, 2019
Recurrent PDGFRB mutations in unicentric Castleman disease.
Li Z et al.
Leukemia, 2019
GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.
Hernandez CC et al.
Scientific Reports, 2017
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
Ishii A et al.
Journal of Medical Genetics, 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
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Janve VS et al.
Annals of Neurology, 2016
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Papandreou A et al.
Developmental Medicine and Child Neurology, 2016
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2014