Associated Papers
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 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
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice.
Li X et al.
Cell Death & Disease, 2021
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
Usluer S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.
Warner TA et al.
Epilepsy Research, 2017
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
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2014
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
Tian M et al.
Neurobiology of Disease, 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
Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.
Kim YO et al.
Journal of Clinical Neurology (seoul, Korea), 2012
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
Tian M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies.
Yalçın O
Seizure, 2012
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
Mutations in GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL et al.
The Journal of Physiology, 2010
Advances on the genetics of mendelian idiopathic epilepsies.
Baulac S et al.
Neurologic Clinics, 2009
Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
Kang JQ et al.
Trends in Molecular Medicine, 2009
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
Kang JQ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures.
Ito M et al.
Neuroscience Letters, 2005
Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.
Macdonald RL et al.
Epilepsy Currents, 0