| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1011196511 |
| P356 | DOI | 10.1007/S00424-010-0816-2 |
| P932 | PMC publication ID | 2885462 |
| P698 | PubMed publication ID | 20352446 |
| P5875 | ResearchGate publication ID | 42640300 |
| P50 | author | Aristea S Galanopoulou | Q62081940 |
| P2860 | cites work | Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies | Q84474178 |
| International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid(A) receptors: classification on the basis of subunit composition, pharmacology, and function. Update | Q24608968 | ||
| CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations | Q24614590 | ||
| Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus | Q24632952 | ||
| GABA regulates stem cell proliferation before nervous system formation | Q24653377 | ||
| Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15 | Q24678294 | ||
| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders | Q24683678 | ||
| Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter | Q28140515 | ||
| First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene | Q28186139 | ||
| Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures | Q28186159 | ||
| The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum | Q28205749 | ||
| Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies | Q28213203 | ||
| A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions | Q28214606 | ||
| Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy | Q28216597 | ||
| Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation | Q28217195 | ||
| Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes | Q28236400 | ||
| Hetero-oligomerization between GABAA and GABAB receptors regulates GABAB receptor trafficking | Q28245383 | ||
| Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations | Q28248837 | ||
| Intracortical hyperexcitability in humans with a GABAA receptor mutation | Q48113383 | ||
| Leukoencephalopathy upon disruption of the chloride channel ClC-2. | Q48136769 | ||
| Properties and sex-specific differences of GABAA receptors in neurons expressing gamma1 subunit mRNA in the preoptic area of the rat. | Q48302133 | ||
| Enhancing GABA(A) receptor alpha 1 subunit levels in hippocampal dentate gyrus inhibits epilepsy development in an animal model of temporal lobe epilepsy. | Q48380900 | ||
| Osmolarity, ionic flux, and changes in brain excitability | Q48381354 | ||
| A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding | Q48460060 | ||
| A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity | Q48474436 | ||
| Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis | Q48482158 | ||
| Role of GABAA receptors in the organization of brain and behavioural sex differences | Q48864115 | ||
| Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy | Q48898137 | ||
| Benzodiazepines induce a conformational change in the region of the gamma-aminobutyric acid type A receptor alpha(1)-subunit M3 membrane-spanning segment. | Q50722415 | ||
| The effect of generalized absence seizures on the progression of kindling in the rat. | Q50898854 | ||
| Sexual dimorphism of GABAA receptor levels in subcortical brain regions of a woodland rodent (Apodemus sylvaticus). | Q51019008 | ||
| Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. | Q51859006 | ||
| Low expression of the ClC-2 chloride channel during postnatal development: a mechanism for the paradoxical depolarizing action of GABA and glycine in the hippocampus. | Q52175622 | ||
| Inflammation contributes to seizure-induced hippocampal injury in the neonatal rat brain. | Q53530584 | ||
| Perturbed chloride homeostasis and GABAergic signaling in human temporal lobe epilepsy. | Q55044608 | ||
| Febrile Seizures | Q56138881 | ||
| Possible association between childhood absence epilepsy and the gene encoding GABRB3 | Q57066913 | ||
| Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences | Q57386849 | ||
| GABAA Receptor 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition | Q60453107 | ||
| A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes | Q68019576 | ||
| Sex differences in GABAA receptor binding in rat brain measured by an improved in vitro binding assay | Q68476623 | ||
| Maturation and segregation of brain networks that modify seizures | Q72610080 | ||
| Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest | Q73911230 | ||
| A novel GABRG2 mutation associated with febrile seizures | Q80148743 | ||
| A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy | Q83828124 | ||
| GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies | Q28259064 | ||
| Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy | Q28262624 | ||
| Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies | Q28271976 | ||
| Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy | Q28289733 | ||
| Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors | Q28295071 | ||
| The K+/Cl- co-transporter KCC2 renders GABA hyperpolarizing during neuronal maturation | Q28296169 | ||
| Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior | Q28506455 | ||
| Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition | Q28513477 | ||
| A chloride channel widely expressed in epithelial and non-epithelial cells | Q28581891 | ||
| Excitatory actions of gaba during development: the nature of the nurture | Q29617435 | ||
| Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy | Q30480652 | ||
| Sexually dimorphic expression of KCC2 and GABA function | Q30487718 | ||
| Hereditary motor and sensory neuropathy with agenesis of the corpus callosum | Q30808946 | ||
| An epilepsy-related region in the GABA(A) receptor mediates long-distance effects on GABA and benzodiazepine binding sites | Q33574699 | ||
| Agenesis of the corpus callosum in two sisters | Q33585744 | ||
| Sites of regulated phosphorylation that control K-Cl cotransporter activity | Q33609638 | ||
| Age-dependent vulnerability to seizures. | Q33748281 | ||
| Gamma-aminobutyric acid increases the water accessibility of M3 membrane-spanning segment residues in gamma-aminobutyric acid type A receptors | Q34171714 | ||
| A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties | Q34302625 | ||
| Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region | Q34337845 | ||
| Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. | Q34381755 | ||
| Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. | Q34512545 | ||
| On the mechanism of alleviation by phenobarbital of the malfunction of an epilepsy-linked GABA(A) receptor | Q34566763 | ||
| Update on the role of substantia nigra pars reticulata in the regulation of seizures | Q34623879 | ||
| Distal truncation of KCC3 in non-French Canadian HMSN/ACC families | Q34692644 | ||
| Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies | Q34789999 | ||
| Cation-chloride cotransporters and neuronal function | Q34969477 | ||
| Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis | Q35218659 | ||
| The 'happy puppet' syndrome of Angelman: review of the clinical features | Q35624161 | ||
| GABA(A) receptor epilepsy mutations | Q35903150 | ||
| Repeated neonatal handling with maternal separation permanently alters hippocampal GABAA receptors and behavioral stress responses. | Q36349077 | ||
| Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice | Q36459381 | ||
| Molecular diversity, trafficking and subcellular localization of GABAB receptors | Q36462270 | ||
| A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. | Q36543720 | ||
| Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. | Q36719106 | ||
| The cellular, molecular and ionic basis of GABA(A) receptor signalling | Q36820573 | ||
| Developmental impact of a familial GABAA receptor epilepsy mutation | Q37000441 | ||
| GABA(A) receptors in normal development and seizures: friends or foes? | Q37104140 | ||
| GABA regulates excitatory synapse formation in the neocortex via NMDA receptor activation | Q37198498 | ||
| Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X | Q37204045 | ||
| Gender and age differences in expression of GABAA receptor subunits in rat somatosensory thalamus and cortex in an absence epilepsy model | Q37255508 | ||
| Age- and gender-related differences in GABAA receptor-mediated postsynaptic currents in GABAergic neurons of the substantia nigra reticulata in the rat | Q37311718 | ||
| Defining the role of GABA in cortical development. | Q37372212 | ||
| Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold | Q39962346 | ||
| The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression | Q40395726 | ||
| Subcellular distribution of GABA(B) receptor homo- and hetero-dimers. | Q40477512 | ||
| Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. | Q40484937 | ||
| Febrile convulsions induced by the combination of lipopolysaccharide and low-dose kainic acid enhance seizure susceptibility, not epileptogenesis, in rats. | Q40489509 | ||
| The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. | Q40506831 | ||
| A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors | Q40519786 | ||
| On the mechanism of a mutated and abnormally functioning gamma-aminobutyric acid (A) receptor linked to epilepsy | Q40548516 | ||
| Selective modulation of tonic and phasic inhibitions in dentate gyrus granule cells | Q40644380 | ||
| Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases | Q41232970 | ||
| The idiopathic generalized epilepsies of adolescence with childhood and juvenile age of onset | Q41344961 | ||
| Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings | Q41936723 | ||
| Increased thalamic inhibition in the absence seizure prone DBA/2J mouse | Q42174253 | ||
| Anesthesia sensitivity in mice that lack the beta3 subunit of the gamma-aminobutyric acid type A receptor | Q42544054 | ||
| An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits | Q42683643 | ||
| SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. | Q43757795 | ||
| A chronic model of atypical absence seizures: studies of developmental and gender sensitivity | Q43873864 | ||
| Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans. | Q44050048 | ||
| Structural evidence that propofol stabilizes different GABA(A) receptor states at potentiating and activating concentrations. | Q44115022 | ||
| Alteration of GABAA receptor function following gene transfer of the CLC-2 chloride channel | Q44189390 | ||
| The distribution of thirteen GABAA receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development | Q44767968 | ||
| GABAA receptor function in developing rat thalamic reticular neurons: whole cell recordings of GABA-mediated currents and modulation by clonazepam | Q45100995 | ||
| Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus | Q46322018 | ||
| Angelman syndrome: correlations between epilepsy phenotypes and genotypes | Q46360972 | ||
| The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors | Q46467962 | ||
| GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior | Q46476149 | ||
| Excitatory GABA action is essential for morphological maturation of cortical neurons in vivo | Q46510840 | ||
| Inflammation exacerbates seizure-induced injury in the immature brain | Q46521208 | ||
| HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. | Q46530165 | ||
| Early expression of KCC2 in rat hippocampal cultures augments expression of functional GABA synapses | Q46551398 | ||
| Clonazepam suppresses GABAB-mediated inhibition in thalamic relay neurons through effects in nucleus reticularis | Q46615067 | ||
| Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder | Q46648430 | ||
| KCC2 interacts with the dendritic cytoskeleton to promote spine development | Q46841260 | ||
| Masking epilepsy by combining two epilepsy genes. | Q46914791 | ||
| Redistribution of GABAB(1) protein and atypical GABAB responses in GABAB(2)-deficient mice. | Q47230908 | ||
| The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies | Q47839867 | ||
| The role of an inwardly rectifying chloride conductance in postsynaptic inhibition | Q48097420 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 505-523 | |
| P577 | publication date | 2010-03-30 | |
| P1433 | published in | Pfluegers Archiv | Q1091689 |
| P1476 | title | Mutations affecting GABAergic signaling in seizures and epilepsy | |
| P478 | volume | 460 |
| Q37201295 | Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. |
| Q35147300 | Altered GABA signaling in early life epilepsies |
| Q34325070 | Altered transporter-mediated neocortical GABA release in Rasmussen encephalitis. |
| Q50281877 | Associative memory cells and their working principle in the brain. |
| Q40006933 | Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome. |
| Q38630656 | Cerebal overinhibition could be the basis for the high prevalence of epilepsy in persons with Down syndrome |
| Q35838099 | Epilepsy as a neurodevelopmental disorder |
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| Q38195925 | GABAA receptors and plasticity of inhibitory neurotransmission in the central nervous system. |
| Q36090789 | GABAergic neuron specification in the spinal cord, the cerebellum, and the cochlear nucleus |
| Q36872719 | Genome-wide analysis reveals conserved transcriptional responses downstream of resting potential change in Xenopus embryos, axolotl regeneration, and human mesenchymal cell differentiation |
| Q39647889 | Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility |
| Q28268192 | Inactivation of the constitutively active ghrelin receptor attenuates limbic seizure activity in rodents. |
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| Q34339959 | Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction. |
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