A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy (Q24308706)

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

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20 October 2019

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

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20 October 2019

autosomal dominant nocturnal frontal lobe epilepsy

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Cholinergic receptor nicotinic alpha 4 subunit

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GOA release 2020-03-11

nervous system process

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GOA release 2020-03-11

Ingrid Scheffer

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20 October 2019

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Steinlein OK

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20 October 2019

Mulley JC

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20 October 2019

Propping P

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20 October 2019

Wallace RH

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20 October 2019

Phillips HA

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20 October 2019

Sutherland GR

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20 October 2019

Berkovic SF

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20 October 2019

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1 October 1995

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20 October 2019

Nature Genetics

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20 October 2019

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20 October 2019

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20 October 2019

201-203

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20 October 2019

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://api.crossref.org/works/10.1038/NG1095-201

20 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/NG1095-201

20 April 2017

Localization of a gene for partial epilepsy to chromosome 10q

1 reference

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20 April 2017

Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3

1 reference

https://api.crossref.org/works/10.1038/NG1095-201

20 April 2017

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

Cellular distribution of nicotinic acetylcholine receptor subunit mRNAs in the human cerebral cortex as revealed by non-isotopic in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

cDNA clones coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

Expression of nicotinic acetylcholine receptor subtypes in brain and retina

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

The Diversity of Neuronal Nicotinic Acetylcholine Receptors

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

Acetylcholine receptor channel imaged in the open state

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

21 January 2018

Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

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Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

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Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

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Primary structure of α-subunit precursor of Torpedo californica acetylcholine receptor deduced from cDNA sequence

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

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Molecular evolution of the nicotinic acetylcholine receptor: an example of multigene family in excitable cells

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

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Use of linkage data obtained in single families: prenatal diagnosis of a new X-linked mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

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inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

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based on heuristic

inferred from DOI database lookup

Nicotinic acetylcholine receptor at 9 A resolution.

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

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The on-off mechanisms of the nicotinic acetylcholine receptor ion channel are performed by thermodynamic forces

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

Thalamocortical oscillations in the sleeping and aroused brain

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNG1095-201

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/NG1095-201

2 references

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20 October 2019

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24 November 2022

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Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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20 October 2019

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