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
Proteostasis regulation of GABAA receptors in neuronal function and disease.
Chen X et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABAA receptors and GABA transporter 1.
Kang JQ et al.
Frontiers in Molecular Neuroscience, 2025
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL et al.
Ebiomedicine, 2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Unknown Author
Nature Neuroscience, 2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Precision medicine: Vinpocetine as a potential treatment for GABRG2-related epilepsy.
Mandelenaki D et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors.
Wang M et al.
Cell & Bioscience, 2022
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.
Yang Y et al.
Frontiers in Molecular Neuroscience, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 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
Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.
Kang JQ
International Journal of Molecular Sciences, 2021
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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
Zhang CQ et al.
Epilepsia, 2019
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN et al.
Epilepsy Research, 2018
γ2 GABAAR Trafficking and the Consequences of Human Genetic Variation.
Lorenz-Guertin JM et al.
Frontiers in Cellular Neuroscience, 2018
Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.
Kang JQ
Epilepsy Research, 2017
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.
Warner TA et al.
Epilepsy Research, 2017
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.
Huang X et al.
Epilepsia, 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
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Janve VS et al.
Annals of 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
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler EM et al.
Annals of Neurology, 2015
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2014
GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G).
Todd E et al.
Neurobiology of Disease, 2014
Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Huang X et al.
Neurobiology of Disease, 2014