Associated Papers
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
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Koko M 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
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Shi YW et al.
Brain : a Journal of Neurology, 2019
Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J et al.
Seizure, 2019
Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
Zhang CQ et al.
Epilepsia, 2019
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 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
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
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
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
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population.
Dixit AB et al.
Annals of Indian Academy of Neurology, 0