Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. (Q34381755)

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14 December 2019

title

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

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14 December 2019

1

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Brett A Cromer

4

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14 December 2019

Michael W Parker

5

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14 December 2019

Robyn Wallace

6

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14 December 2019

Samuel Berkovic

10

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14 December 2019

author name string

David A Wagner

2

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14 December 2019

Cynthia Czajkowski

3

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14 December 2019

Louise A Harkin

7

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14 December 2019

John C Mulley

8

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14 December 2019

Carla Marini

9

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14 December 2019

David A Williams

11

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14 December 2019

Mathew V Jones

12

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14 December 2019

Steven Petrou

13

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14 December 2019

language of work or name

English

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publication date

1 November 2002

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

14 December 2019

published in

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14 December 2019

volume

99

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14 December 2019

issue

23

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14 December 2019

page(s)

15170-15175

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

14 December 2019

cites work

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

6 July 2018

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Ion channels and epilepsy

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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On the cellular and network bases of epileptic seizures.

6 July 2018

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

6 July 2018

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Absence epilepsy: advances in experimental animal models

6 July 2018

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

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

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

6 July 2018

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

6 July 2018

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A potassium channel mutation in neonatal human epilepsy

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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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

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

6 July 2018

1 reference

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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

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Thalamocortical oscillations in the sleeping and aroused brain

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

1 reference

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An update on GABAA receptors

6 July 2018

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Crossref

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

Desensitized states prolong GABAA channel responses to brief agonist pulses.

21 January 2018

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

21 January 2018

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A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

27 October 2018

1 reference

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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

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14 December 2019

0 references

1 reference

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14 December 2019

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