Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. - Wikidata - awgldk - TriplyDB

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

http://www.wikidata.org/entity/Q42607120

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Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Advancing epilepsy genetics in the genomic era New vistas on astroglia in convulsive and non-convulsive epilepsy highlight novel astrocytic targets for treatment The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy.Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?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 Altered intrathalamic GABAA neurotransmission in a mouse model of a human genetic absence epilepsy syndrome.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Novel GABRG2 mutations cause familial febrile seizures Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.SAHA enhances Proteostasis of epilepsy-associated α1(A322D)β2γ2 GABA(A) receptors.Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.From sleep spindles of natural sleep to spike and wave discharges of typical absence seizures: is the hypothesis still valid?Headache and epilepsy.Novel astrocyte targets: new avenues for the therapeutic treatment of epilepsy Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.De novo GABRA1 mutations in Ohtahara and West syndromes.Dravet syndrome and its mimics: Beyond SCN1A.Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.GABA type a receptor trafficking and the architecture of synaptic inhibition.Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.SAHA (Vorinostat) Corrects Inhibitory Synaptic Deficits Caused by Missense Epilepsy Mutations to the GABAA Receptor γ2 Subunit.A novel variant in GABRB2 associated with intellectual disability and epilepsy.Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies A Caenorhabditis elegans assay of seizure-like activity optimised for identifying antiepileptic drugs and their mechanisms of action γ2 GABAR Trafficking and the Consequences of Human Genetic Variation

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Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

http://www.wikidata.org/entity/Q42607120

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name

Novel α1 and γ2 GABAA receptor ...... iopathic generalized epilepsy.

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Novel α1 and γ2 GABAA receptor ...... iopathic generalized epilepsy.

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type

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Novel α1 and γ2 GABAA receptor ...... iopathic generalized epilepsy.

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Novel α1 and γ2 GABAA receptor ...... iopathic generalized epilepsy.

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Novel α1 and γ2 GABAA receptor ...... iopathic generalized epilepsy.

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Novel α1 and γ2 GABAA receptor ...... iopathic generalized epilepsy.

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J.1460-9568.2011.07767.X

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European Journal of Neuroscience

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Novel α1 and γ2 GABAA receptor ...... diopathic generalized epilepsy

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Anne Lortie

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Caroline Meloche

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Fiona Bedford

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Hélène Lacasse

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Line Lapointe

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Lionel Carmant

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Pamela Lachance-Touchette

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Patrick Cossette

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Peter Kinirons

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P2860

Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

GABA A receptors: subtypes provide diversity of function and pharmacology

International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid(A) receptors: classification on the basis of subunit composition, pharmacology, and function. Update

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

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