(Q28267274)

English

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

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

myoclonic epilepsy

1 reference

based on heuristic

inferred from title

juvenile myoclonic epilepsy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Martin J Gallagher

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Luyan Song

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Fazal Arain

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Robert L Macdonald

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

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publication date

1 June 2004

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

24

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

24

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

5570-5578

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Identification of amino acid residues within GABA(A) receptor beta subunits that mediate both homomeric and heteromeric receptor expression.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gamma-aminobutyric acid increases the water accessibility of M3 membrane-spanning segment residues in gamma-aminobutyric acid type A receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of residues within GABA(A) receptor alpha subunits that mediate specific assembly with receptor beta subunits.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The actions of ether, alcohol and alkane general anaesthetics on GABAA and glycine receptors and the effects of TM2 and TM3 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular trafficking of GABA(A) receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benzodiazepines induce a conformational change in the region of the gamma-aminobutyric acid type A receptor alpha(1)-subunit M3 membrane-spanning segment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a common binding cavity for three general anesthetics within the GABAA receptor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subunit arrangement of gamma-aminobutyric acid type A receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile myoclonic epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel site on gamma 3 subunits important for assembly of GABA(A) receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural evidence that propofol stabilizes different GABA(A) receptor states at potentiating and activating concentrations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A transmembrane motif governs the surface trafficking of nicotinic acetylcholine receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coupled and uncoupled gating and desensitization effects by pore domain mutations in GABA(A) receptors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and gating mechanism of the acetylcholine receptor pore

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tryptophan scanning mutagenesis in the alphaM3 transmembrane domain of the Torpedo californica acetylcholine receptor: functional and structural implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of GABAA receptor subunits: analysis of transient single-cell expression utilizing a fluorescent substrate/marker gene technique.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Causes of epilepsy: contributions of the Rochester epidemiology project.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stoichiometry and assembly of a recombinant GABAA receptor subtype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurosteroid prolongs GABAA channel deactivation by altering kinetics of desensitized states

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency-dependent actions of benzodiazepines on GABAA receptors in cultured murine cerebellar granule cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A potassium channel mutation in neonatal human epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zn2+ inhibition of recombinant GABAA receptors: an allosteric, state-dependent mechanism determined by the gamma-subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/15201329

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/15201329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.1301-04.2004

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15201329%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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