Associated Papers
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
Proteostasis regulation of GABAA receptors in neuronal function and disease.
Chen X et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Missense variants in GABAA receptor beta2 subunit disrupt receptor biogenesis and cause loss of function.
Chen X et al.
Biorxiv : the Preprint Server for Biology, 2025
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Pharmacological Research, 2024
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.
Arslan A
Heliyon, 2023
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 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
Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.
Chen W et al.
International Journal of Molecular Sciences, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.
Gotra P et al.
Molecular Neurobiology, 2021
Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.
Kang JQ
International Journal of Molecular Sciences, 2021
Proteostasis Regulators Restore Function of Epilepsy-Associated GABAA Receptors.
Di XJ et al.
Cell Chemical Biology, 2021
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Steudle F et al.
Scientific Reports, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Spectrum of GABAA receptor variants in epilepsy.
Maljevic S et al.
Current Opinion in Neurology, 2019
Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.
Gilsoul M et al.
Frontiers in Cellular Neuroscience, 2019
Association of GABAA Receptor Gene with Epilepsy Syndromes.
Bhat MA et al.
Journal of Molecular Neuroscience : Mn, 2018
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Oyrer J et al.
Pharmacological Reviews, 2018
Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.
Kang JQ
Epilepsy Research, 2017
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos BPD et al.
Plos One, 2017
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
De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H et al.
Epilepsia, 2016
The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy.
Arain F et al.
Neurobiology of Disease, 2015
L-type Calcium Channel Blockers Enhance Trafficking and Function of Epilepsy-associated α1(D219N) Subunits of GABA(A) Receptors.
Han DY et al.
Acs Chemical Biology, 2015
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
Yuan H et al.
Molecular Pharmacology, 2015
Combining valosin-containing protein (VCP) inhibition and suberanilohydroxamic acid (SAHA) treatment additively enhances the folding, trafficking, and function of epilepsy-associated γ-aminobutyric acid, type A (GABAA) receptors.
Han DY et al.
The Journal of Biological Chemistry, 2015
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 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
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
SAHA enhances Proteostasis of epilepsy-associated α1(A322D)β2γ2 GABA(A) receptors.
Di XJ et al.
Chemistry & Biology, 2013
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Kang JQ et al.
Annals of Neurology, 2013
Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.
Zhou C et al.
The Journal of Biological Chemistry, 2013
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
Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit.
Arain FM et al.
Epilepsia, 2012
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Leu C et al.
Epilepsia, 2012