How mutations in the nAChRs can cause ADNFLE epilepsy (Q28214822)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

How mutations in the nAChRs can cause ADNFLE epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Samuel Berkovic

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

D Bertrand

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

F Picard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Weiland

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

I Favre

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

H Phillips

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Bertrand

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

A Malafosse

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J Mulley

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

43 Suppl 5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

112-122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

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

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Neuronal nicotinic acetylcholine receptors: from the gene to the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Permeation and block of N-methyl-D-aspartic acid receptor channels by divalent cations in mouse cultured central neurones

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Ion channel variation causes epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

An evaluation of neuronal nicotinic acetylcholine receptor activation by quaternary nitrogen compounds indicates that choline is selective for the alpha 7 subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Distribution of mRNA for the alpha4 subunit of the nicotinic acetylcholine receptor in the human fetal brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Active propagation of somatic action potentials into neocortical pyramidal cell dendrites

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Modeling action potential initiation and back-propagation in dendrites of cultured rat motoneurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

A new cellular mechanism for coupling inputs arriving at different cortical layers

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

High I(h) channel density in the distal apical dendrite of layer V pyramidal cells increases bidirectional attenuation of EPSPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Expression of nicotinic acetylcholine receptor subunits in the cerebral cortex in Alzheimer's disease: histotopographical correlation with amyloid plaques and hyperphosphorylated-tau protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

Expression of nicotinic acetylcholine receptors in Alzheimer's disease: postmortem investigations and experimental approaches.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.5.16.X

10.1046/J.1528-1157.43.S.5.16.X

21 January 2018

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121305%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017