(Q79439363)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17175814%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

GABA(A) receptor mutations associated with generalized epilepsies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17175814%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

author name string

Robert L Macdonald

1

1 reference

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23 December 2019

Jing-Qiong Kang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17175814%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Martin J Gallagher

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17175814%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Hua-Jun Feng

4

1 reference

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23 December 2019

publication date

1 January 2006

1 reference

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23 December 2019

published in

Advances in Pharmacology

1 reference

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23 December 2019

volume

54

1 reference

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23 December 2019

page(s)

147-169

1 reference

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CFTR and chaperones: processing and degradation.

23 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Alterations in GABAA receptor alpha 1 and alpha 4 subunit mRNA levels in thalamic relay nuclei following absence-like seizures in rats.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Intracellular trafficking of GABA(A) receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Subunit arrangement of gamma-aminobutyric acid type A receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Forced subunit assembly in alpha1beta2gamma2 GABAA receptors. Insight into the absolute arrangement

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

A single residue in the M2-M3 loop is a major determinant of coupling between binding and gating in neuronal nicotinic receptors.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Stoichiometry of a recombinant GABAA receptor.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Dentate granule cell GABA(A) receptors in epileptic hippocampus: enhanced synaptic efficacy and altered pharmacology

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Loss of synaptic inhibition during repetitive stimulation in genetically epilepsy-prone rats (GEPR).

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Modulation of audiogenically kindled seizures by gamma-aminobutyric acid-related mechanisms in the amygdala

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

GABAA receptor subunit gamma2 and delta subtypes confer unique kinetic properties on recombinant GABAA receptor currents in mouse fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Genetics of idiopathic epilepsies

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Desensitized states prolong GABAA channel responses to brief agonist pulses.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Rapid seizure-induced reduction of benzodiazepine and Zn2+ sensitivity of hippocampal dentate granule cell GABAA receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Antisense oligonucleotide to GABA(A) receptor gamma2 subunit induces limbic status epilepticus.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Coupling of agonist binding to channel gating in the GABA(A) receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

GABA(A) receptor assembly. Identification and structure of gamma(2) sequences forming the intersubunit contacts with alpha(1) and beta(3) subunits

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Detection and binding properties of GABA(A) receptor assembly intermediates.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Alternate use of distinct intersubunit contacts controls GABAA receptor assembly and stoichiometry.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Structure and gating mechanism of the acetylcholine receptor pore

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

Channelopathies as a genetic cause of epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

A glia-derived acetylcholine-binding protein that modulates synaptic transmission.

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

A transmembrane motif governs the surface trafficking of nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1054-3589%2806%2954007-4

7 January 2021

10.1016/S1054-3589(06)54007-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17175814%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference