Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Epilepsy Research

• Publication date

  2014-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.eplepsyres.2013.12.005PMID 24480790
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

  2009cited by this paper
• A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

  2009cited by this paper
• The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression

  2009cited by this paper
• Mechanisms of GABAA receptor assembly and trafficking

  2007cited by this paper
• A novel GABRG2 mutation associated with febrile seizures

  2006cited by this paper
• A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

  2006cited by this paper
• Endoplasmic Reticulum Retention and Associated Degradation of a GABAA Receptor Epilepsy Mutation That Inserts an Aspartate in the M3 Transmembrane Segment of the α1 Subunit*

  2005cited by this paper
• Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

  2005cited by this paper
• Epilepsy and sodium channel gene mutations: gain or loss of function?

  2005cited by this paper
• The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors.

  2005cited by this paper
• A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

  2005cited by this paper
• SCN1A mutations and epilepsy

  2005cited by this paper
• Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

  2004cited by this paper
• A GABAA Receptor Mutation Linked to Human Epilepsy (γ2R43Q) Impairs Cell Surface Expression of αβγ Receptors*

  2004cited by this paper
• Nonsense-mediated decay approaches the clinic

  2004cited by this paper
• The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.

  2004cited by this paper
• The GABAA Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum

  2004cited by this paper
• Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

  2004cited by this paper
• A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors.

  2004cited by this paper
• Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

  2004cited by this paper
• The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ.

  2004cited by this paper
• GABA(A) receptor epilepsy mutations.

  2004cited by this paper
• A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

  2004cited by this paper
• Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

  2004cited by this paper
• The 2 Subunit of GABAA Receptors Is a Substrate for Palmitoylation by GODZ

  2004cited by this paper
• Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

  2003cited by this paper
• Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

  2003cited by this paper
• Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

  2003cited by this paper
• Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

  2003cited by this paper
• Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

  2003cited by this paper
• De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

  2003cited by this paper
• Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

  2002cited by this paper
• Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.

  2002cited by this paper
• Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

  2002cited by this paper
• Role of the PLC‐related, catalytically inactive protein p130 in GABAA receptor function

  2002cited by this paper
• Dynamic regulation of GABA(A) receptors at synaptic sites.

  2002cited by this paper
• Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA.

  2002cited by this paper
• Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

  2002cited by this paper
• Mechanisms of GABA(A) receptor assembly and trafficking - Implications for the modulation of inhibitory neurotransmission

  2002cited by this paper
• Homologous sites of GABAA receptor α1, β3 and γ2 subunits are important for assembly

  2002cited by this paper
• A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

  2001cited by this paper
• Constructing inhibitory synapses

  2001cited by this paper
• De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

  2001cited by this paper
• Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

  2001cited by this paper
• Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

  2001cited by this paper
• Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+?

  2001cited by this paper
• First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

  2001cited by this paper
• The subcellular distribution of GABARAP and its ability to interact with NSF suggest a role for this protein in the intracellular transport of GABA(A) receptors.

  2001cited by this paper
• Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

  2001cited by this paper
• Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

  2001cited by this paper
• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

  2000cited by this paper
• A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

  2000cited by this paper
• Identification of Residues within GABAA Receptor α Subunits That Mediate Specific Assembly with Receptor β Subunits

  2000cited by this paper
• Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues

  1999cited by this paper
• Identification of Amino Acid Residues within GABAAReceptor β Subunits that Mediate Both Homomeric and Heteromeric Receptor Expression

  1999cited by this paper
• A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

  1999cited by this paper
• GABAA-receptor-associated protein links GABAA receptors and the cytoskeleton

  1999cited by this paper
• Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.

  1998cited by this paper
• Postsynaptic clustering of major GABAA receptor subtypes requires the γ2 subunit and gephyrin

  1998cited by this paper
• Assembly of GABAA Receptors Composed of α1 and β2 Subunits in Both Cultured Neurons and Fibroblasts

  1997cited by this paper
• Bicuculline and Gabazine Are Allosteric Inhibitors of Channel Opening of the GABAA Receptor

  1997cited by this paper
• Assembly and cell surface expression of heteromeric and homomeric gamma-aminobutyric acid type A receptors.

  1996cited by this paper
• Assembly and Cell Surface Expression of Heteromeric and Homomeric -Aminobutyric Acid Type A Receptors (*)

  1996cited by this paper
• Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors.

  1995cited by this paper
• Visual identification of individual transfected cells for electrophysiology using antibody-coated beads.

  1994cited by this paper
• Small N‐Terminal Deletion by Splicing in Cerebellar α6 Subunit Abolishes GABAA Receptor Function

  1994cited by this paper
• Optimized survival of hippocampal neurons in B27‐supplemented neurobasal™, a new serum‐free medium combination

  1993cited by this paper

• Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.

  2026cites this paper
• Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome

  2025cites this paper
• Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome

  2024cites this paper
• GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases

  2024cites this paper
• Cognitive Disorders, Depression and Anxiety in Temporal Lobe Epilepsy: An Overview

  2024cites this paper
• Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment.

  2024cites this paper
• GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics

  2024cites this paper
• GABRG2 Variants Associated with Febrile Seizures

  2023cites this paper
• GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants

  2023cites this paper
• The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation

  2022cites this paper
• Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants

  2022cites this paper
• Whole-exome sequencing of patients with juvenile myoclonic epilepsy

  2022cites this paper
• Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes

  2022cites this paper
• Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice

  2021cites this paper
• Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.

  2019cites this paper
• New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies.

  2019cites this paper
• Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome

  2018cites this paper
• Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy

  2018cites this paper
• Genetic literacy series: genetic epilepsy with febrile seizures plus.

  2018cites this paper
• γ2 GABAAR Trafficking and the Consequences of Human Genetic Variation

  2018cites this paper
• Clinical Features of Refractory Status Epilepticus in Various Conditions

  2017cites this paper
• Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome

  2017cites this paper
• Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome

  2017cites this paper
• Differential Alterations of GABA A Receptors in Epilepsy

  2016cites this paper
• Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

  2016cites this paper
• Ion Channels in Neurological Disorders.

  2016cites this paper
• Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

  2016cites this paper
• Exploring Human Diseases and Biological Mechanisms by Protein Structure Prediction and Modeling.

  2016cites this paper
• Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies

  2016cites this paper
• GABAergic mechanisms in epilepsy and contribution of the ClC-2 chloride channel to neuronal excitability

  2016influential citation
• Studying mutation in GABRG2 Gene involved in occurrence of grand Malepilepsy among Iranian patients using PCR-SCCP/HA methodology

  2016cites this paper
• Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

  2016cites this paper
• The European patient with Dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome.

  2015cites this paper
• The Human Epilepsy Mutation GABRG2(Q390X) Causes Chronic Subunit Accumulation and Neurodegeneration

  2015cites this paper
• Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.

  2015cites this paper
• Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.

  2015cites this paper
• Genetic neurological channelopathies: molecular genetics and clinical phenotypes

  2015cites this paper
• Novel GABRG2 mutations cause familial febrile seizures

  2015cites this paper
• The Genetic Epilepsies

  2015cites this paper
• E(R)-GADD! Exploring Mutations in Generalized Epilepsy

  2014cites this paper
• Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner

  2014cites this paper
• Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

  2014cites this paper
• Epilepsy-associated mutations in GABRG2: characterization and therapeutic opportunities

  2014cites this paper
• ER Reorganization is Remarkably Induced in COS-7 Cells Accumulating Transmembrane Protein Receptors Not Competent for Export from the Endoplasmic Reticulum

  2014cites this paper