Associated Papers
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.
Ortiz S et al.
Epilepsia, 2025
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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A et al.
Neurology, 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
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.
Chui MM et al.
Npj Genomic Medicine, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 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
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
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E et al.
Cells, 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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.
Yang Y et al.
Frontiers in Molecular Neuroscience, 2022
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.
Kang JQ
International Journal of Molecular Sciences, 2021
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
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
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW et al.
The Journal of Molecular Diagnostics : Jmd, 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
De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D et al.
Brain : a Journal of Neurology, 2017
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F et al.
Journal of Neurogenetics, 0