Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases (Q33999205)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21858011%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases (English)

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11 February 2020

1

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11 February 2020

2

Ivan Molineris

2 references

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11 February 2020

30 July 2017

3

Ugo Ala

2 references

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11 February 2020

30 July 2017

4

Ferdinando Di Cunto

2 references

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11 February 2020

30 July 2017

1

Rosario M Piro

1 reference

21858011

30 July 2017

language of work or name

English

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publication date

17 August 2011

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11 February 2020

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11 February 2020

volume

6

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11 February 2020

issue

8

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11 February 2020

page(s)

e23149

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Creative Commons Attribution 4.0 International

11 February 2020

copyright license

start time

17 August 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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28 July 2018

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28 July 2018

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Novel etiological and therapeutic strategies for neurodiseases: mechanisms and consequences of febrile seizures: lessons from animal models

28 July 2018

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Febrile seizures: current views and investigations

28 July 2018

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Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.

28 July 2018

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Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction

28 July 2018

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

28 July 2018

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GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A

28 July 2018

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Status epilepticus in Wilson's disease

28 July 2018

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Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population

28 July 2018

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Febrile seizures: mechanisms and relationship to epilepsy

28 July 2018

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Progress in searching for the febrile seizure susceptibility genes

28 July 2018

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Visinin-like proteins (VSNLs): interaction partners and emerging functions in signal transduction of a subfamily of neuronal Ca2+ -sensor proteins

28 July 2018

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NCBI GEO: archive for high-throughput functional genomic data

28 July 2018

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McKusick's Online Mendelian Inheritance in Man (OMIM)

28 July 2018

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A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.

28 July 2018

1 reference

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Behavioral characterization of P311 knockout mice

28 July 2018

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Leptin inhibits 4-aminopyridine- and pentylenetetrazole-induced seizures and AMPAR-mediated synaptic transmission in rodents

28 July 2018

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Genome-wide atlas of gene expression in the adult mouse brain

28 July 2018

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Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.

28 July 2018

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Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Molecular genetics of febrile seizures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Phenotypes and genotypes in epilepsy with febrile seizures plus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18.

28 July 2018

1 reference

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Fever, genes, and epilepsy

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Bim regulation may determine hippocampal vulnerability after injurious seizures and in temporal lobe epilepsy

28 July 2018

1 reference

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The in vivo roles of STEF/Tiam1, Rac1 and JNK in cortical neuronal migration

28 July 2018

1 reference

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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

28 July 2018

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The human genome browser at UCSC

28 July 2018

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How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

A novel gene causing a mendelian audiogenic mouse epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Evidence for the involvement of Tiam1 in axon formation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Effects of blocking GABA degradation on corticotropin-releasing hormone gene expression in selected brain regions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Febrile convulsions and mesial temporal sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Neuropeptide-mediated excitability: a key triggering mechanism for seizure generation in the developing brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Cloning and tissue distribution of two new potassium channel alpha-subunits from rat brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

A novel lipid-anchored A-kinase Anchoring Protein facilitates cAMP-responsive membrane events

28 July 2018

1 reference

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Regulated secretion in platelets: identification of elements of the platelet exocytosis machinery

28 July 2018

1 reference

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Molecular characterization of seizure-related genes isolated by differential screening

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

28 July 2018

Complex febrile seizures

1 reference

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Peptidylglycine alpha-amidating monooxygenase and other processing enzymes in the neurointermediate pituitary

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Factors prognostic of unprovoked seizures after febrile convulsions

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Involvement of the neuropeptide corticotropin-releasing hormone in an animal model of Shigella-related seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Caytaxin deficiency causes generalized dystonia in rats

21 January 2018

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Role of glutaredoxin1 and glutathione in regulating the activity of the copper-transporting P-type ATPases, ATP7A and ATP7B.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Epilepsy in Menkes disease: analysis of clinical stages.

21 January 2018

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Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Ca(2+) entry through L-type Ca(2+) channels helps terminate epileptiform activity by activation of a Ca(2+) dependent afterhyperpolarisation in hippocampal CA3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Association study on the NAPG gene and bipolar disorder in the Chinese Han population

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Sonic hedgehog signaling regulates actin cytoskeleton via Tiam1-Rac1 cascade during spine formation

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

A PI3-kinase-mediated negative feedback regulates neuronal excitability

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Neuronal Ca2+ sensor VILIP-1 leads to the upregulation of functional alpha4beta2 nicotinic acetylcholine receptors in hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023149

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157479

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

29 October 2018

1 reference

12 December 2020

Genetic mapping of a locus (mass1) causing audiogenic seizures in mice

1 reference

12 December 2020

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

1 reference

12 December 2020

Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder

1 reference

12 December 2020

A text-mining analysis of the human phenome

1 reference

12 December 2020

A novel GABRG2 mutation associated with febrile seizures

1 reference

12 December 2020

Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22

1 reference

12 December 2020

A Novel Locus for Generalized Epilepsy With Febrile Seizures Plus in French Families

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0023149

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21858011%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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11 February 2020

21858011

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