Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A et al.
Neurology, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 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
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
Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.
Jiang YL et al.
Journal of Neurology, 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
Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae.
Liao M et al.
Disease Models & Mechanisms, 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
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
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
Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.
Wang J et al.
Scientific Reports, 2016
Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.
Warner TA et al.
Human Molecular Genetics, 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
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 GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ et al.
Neurobiology of Disease, 2014
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Kang JQ et al.
Annals of Neurology, 2013
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