Associated Papers
GABRA1 frameshift variants impair GABAA receptor proteostasis.
Williams MP et al.
Biorxiv : the Preprint Server for Biology, 2025
FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms.
Monaghan RM et al.
Cardiovascular Research, 2024
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Mermer F et al.
Neurobiology of Disease, 2022
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models.
Nwosu G et al.
Brain Communications, 2022
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Mermer F et al.
Brain : a Journal of Neurology, 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
Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
Delahanty RJ et al.
Cell 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
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
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
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
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
Lachance-Touchette P et al.
The European Journal of Neuroscience, 2011
Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.
Kang JQ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
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
Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
Kang JQ et al.
Trends in Molecular Medicine, 2009
Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.
Kang JQ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
Maljevic S et al.
Annals of Neurology, 2006
Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.
Macdonald RL et al.
Epilepsy Currents, 0