Associated Papers
A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Shen D et al.
Cell Death Discovery, 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
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.
Li X et al.
Journal of Translational Medicine, 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
GABRG2 Variants Associated with Febrile Seizures.
Hernandez CC et al.
Biomolecules, 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
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.
Yang Y et al.
Frontiers in Molecular Neuroscience, 2022
GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort.
Saleem T et al.
Biomed Research International, 2022
The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice.
Qu S et al.
Neurobiology of Disease, 2021
Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J et al.
Seizure, 2019
γ2 GABAAR Trafficking and the Consequences of Human Genetic Variation.
Lorenz-Guertin JM et al.
Frontiers in Cellular Neuroscience, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.
Warner TA et al.
Epilepsy Research, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D et al.
Brain : a Journal of Neurology, 2017
Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis.
Haerian BS et al.
Molecular Neurobiology, 2016
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
Kang JQ et al.
Jama Neurology, 2016
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
Novel GABRG2 mutations cause familial febrile seizures.
Boillot M et al.
Neurology. Genetics, 2015
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2014
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ et al.
Neurobiology of Disease, 2014
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.
Lachance-Touchette P et al.
Frontiers in Cellular Neuroscience, 2014
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL et al.
Epilepsia, 2012
Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
Kang JQ et al.
Trends in Molecular Medicine, 2009
The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.
Dibbens LM et al.
Neuroscience Letters, 2009
Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.
Chou IC et al.
Pediatric Neurology, 2007
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.
Chou IC et al.
Pediatric Research, 2003