(Q28295071)

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Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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Leanne Dibbens

4

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ORCID Public Data File 2021

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Hua-Jun Feng

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jing-Qiong Kang

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Luyan Song

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

John Mulley

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Robert L Macdonald

6

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Europe PubMed Central

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16 January 2020

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1 February 2006

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Europe PubMed Central

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16 January 2020

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

26

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

5

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1499-1506

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6675478/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Preferential coassembly of alpha4 and delta subunits of the gamma-aminobutyric acidA receptor in rat thalamus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced neurosteroid potentiation of ternary GABA(A) receptors containing the delta subunit.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Behavior and physiology of mice lacking the GABAA-receptor delta subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pharmacological characterization of a novel cell line expressing human alpha(4)beta(3)delta GABA(A) receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Slow phases of GABA(A) receptor desensitization: structural determinants and possible relevance for synaptic function

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unraveling monogenic channelopathies and their implications for complex polygenic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Channelopathies as a genetic cause of epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetics of human epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The distribution of 13 GABAA receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modifications of a commercial perfusion system for use in ultrafast solution exchange during patch clamp recording

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ethanol enhances alpha 4 beta 3 delta and alpha 6 beta 3 delta gamma-aminobutyric acid type A receptors at low concentrations known to affect humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serine 171, a conserved residue in the gamma-aminobutyric acid type A (GABAA) receptor gamma2 subunit, mediates subunit interaction and cell surface localization

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of GABA(A) receptors containing the alpha4 subunit by GABA and pentobarbital

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monogenic idiopathic epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pentobarbital differentially modulates alpha1beta3delta and alpha1beta3gamma2L GABAA receptor currents

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA and its receptors in epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diversity of inhibitory neurotransmission through GABA(A) receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA(A) receptor epilepsy mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered expression of the delta subunit of the GABAA receptor in a mouse model of temporal lobe epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Susceptibility genes for complex epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of GABAA receptor subunits: role of the delta subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of GABAA receptor subunits: alpha 1 beta 1 and alpha 1 beta 1 gamma 2S subunits produce unique ion channels with dissimilar single-channel properties

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the hippocampal GABAA receptor system in kindled rats by autoradiographic and in situ hybridization techniques: contingent tolerance to carbamazepine

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Which GABAA-receptor subtypes really occur in the brain?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of functional GABAA receptors in transfected L929 cells isolated by immunomagnetic bead separation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA(A) receptor subunits in the rat hippocampus II: altered distribution in kainic acid-induced temporal lobe epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single channel properties of recombinant GABAA receptors containing gamma 2 or delta subtypes expressed with alpha 1 and beta 3 subtypes in mouse L929 cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epilepsies in twins: genetics of the major epilepsy syndromes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selective changes in single cell GABA(A) receptor subunit expression and function in temporal lobe epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16452673

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.2913-05.2006

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16452673%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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