(Q34381755)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Brett A Cromer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Michael W Parker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Robyn Wallace

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Samuel Berkovic

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

David A Wagner

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Cynthia Czajkowski

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Louise A Harkin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

John C Mulley

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Carla Marini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

David A Williams

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Mathew V Jones

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Steven Petrou

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

language of work or name

English

0 references

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

14 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

15170-15175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

Anxiety over GABA(A) receptor structure relieved by AChBP.

14 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Ion channels and epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

On the cellular and network bases of epileptic seizures.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Absence epilepsy: advances in experimental animal models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

International Union of Pharmacology. XV. Subtypes of gamma-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Molecular dissection of benzodiazepine binding and allosteric coupling using chimeric gamma-aminobutyric acidA receptor subunits.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

A potassium channel mutation in neonatal human epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Key amino acids in the gamma subunit of the gamma-aminobutyric acidA receptor that determine ligand binding and modulation at the benzodiazepine site.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Subtle changes in residue 77 of the gamma subunit of alpha1beta2gamma2 GABAA receptors drastically alter the affinity for ligands of the benzodiazepine binding site

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Thalamocortical oscillations in the sleeping and aroused brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Functional and molecular distinction between recombinant rat GABAA receptor subtypes by Zn2+

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

GABAA receptors are differentially sensitive to zinc: dependence on subunit composition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

An update on GABAA receptors

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.212320199

Desensitized states prolong GABAA channel responses to brief agonist pulses.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.212320199

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137562

Genetics of the epilepsies

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12415111

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Transmitter timecourse in the synaptic cleft: its role in central synaptic function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12415111

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.212320199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12415111%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

PubMed publication ID

12415111

1 reference