(Q24290583)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant nocturnal frontal lobe epilepsy

2 November 2019

main subject

0 references

acetylcholine

1 reference

Cholinergic receptor nicotinic beta 1 subunit

inferred from title

1 reference

GOA release 2020-03-11

nervous system process

1 reference

GOA release 2020-03-11

author

Sarah E Heron

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Ingrid Scheffer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Samuel Berkovic

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

Phillips HA

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Favre I

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Kirkpatrick M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Zuberi SM

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Goudie D

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Sutherland GR

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Bertrand D

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Mulley JC

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

5 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

225-231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Molecular cloning of a human neuronal nicotinic acetylcholine receptor beta 3-like subunit

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3)

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

19 March 2017

https://api.crossref.org/works/10.1086%2F316946

7 January 2021

inferred from DOI database lookup

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Cloning and transient expression of genes encoding the human alpha 4 and beta 2 neuronal nicotinic acetylcholine receptor (nAChR) subunits

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Functional architecture of the nicotinic acetylcholine receptor: a prototype of ligand-gated ion channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

A general method of site-specific mutagenesis using a modification of the Thermus aquaticus polymerase chain reaction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes have a pentameric quaternary structure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Pentameric structure and subunit stoichiometry of a neuronal nicotinic acetylcholine receptor

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Multiple components in the agonist concentration-response relationships of neuronal nicotinic acetylcholine receptors.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234917

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11104662

12 December 2020

inferred from PubMed ID database lookup

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11104662

12 December 2020

inferred from PubMed ID database lookup

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F316946

7 January 2021

inferred from DOI database lookup

Autosomal dominant nocturnal frontal lobe epilepsy

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F316946

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/316946

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11104662%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

2 references