(Q36841480)

16 August 2017

Multiple molecular mechanisms for a single GABAA mutation in epilepsy (English)

1 reference

16 August 2017

Bernhard Luscher

6

0 references

Christopher A Reid

object named as

Christopher A Reid

1

0 references

Samuel Berkovic

object named as

Samuel F Berkovic

5

0 references

author name string

Taehwan Kim

2

1 reference

16 August 2017

A Marie Phillips

3

1 reference

16 August 2017

Jun Low

4

1 reference

16 August 2017

Steven Petrou

7

1 reference

16 August 2017

language of work or name

English

0 references

publication date

13 February 2013

1 reference

16 August 2017

1 reference

16 August 2017

80

1 reference

16 August 2017

11

1 reference

16 August 2017

1003-1008

1 reference

Extrasynaptic GABA(A) receptors: their function in the CNS and implications for disease

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Temperature elevation increases GABA(A) -mediated cortical inhibition in a mouse model of genetic epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Low blood glucose precipitates spike-and-wave activity in genetically predisposed animals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Mechanisms of human inherited epilepsies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Navigating the channels and beyond: unravelling the genetics of the epilepsies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Experimental febrile seizures are precipitated by a hyperthermia-induced respiratory alkalosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Distinct gamma2 subunit domains mediate clustering and synaptic function of postsynaptic GABAA receptors and gephyrin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Tonic inhibition in mouse hippocampal CA1 pyramidal neurons is mediated by alpha5 subunit-containing gamma-aminobutyric acid type A receptors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Quantitative trait locus on distal chromosome 1 regulates the occurrence of spontaneous spike-wave discharges in DBA/2 mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Increased thalamic inhibition in the absence seizure prone DBA/2J mouse

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Intracortical hyperexcitability in humans with a GABAA receptor mutation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Single-channel properties of neuronal GABAA receptors from mice lacking the 2 subunit.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3653202

Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23408872

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mapping murine loci for seizure response to kainic acid

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23408872

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GABAA Receptor 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23408872

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182872867

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23408872

1 reference