(Q36845174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

review article

1 reference

title

A polygenic heterogeneity model for common epilepsies with complex genetics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Dibbens LM

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Mulley JC

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

language of work or name

English

0 references

publication date

7 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

Genes, Brain and Behavior

31 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

593-597

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Mutation in blood coagulation factor V associated with resistance to activated protein C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Approaches to identify genes for complex human diseases: lessons from Mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Unraveling monogenic channelopathies and their implications for complex polygenic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

The spectrum of SCN1A-related infantile epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Genetic variation of CACNA1H in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Channelopathies in idiopathic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Susceptibility genes for complex epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.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/10.1111%2FJ.1601-183X.2007.00333.X

The allelic architecture of human disease genes: common disease-common variant... or not?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

The genetics of human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.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/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Genetic association studies in epilepsy: "the truth is out there".

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

A bias-ed assessment of the use of SNPs in human complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

Association studies and functional validation or functional validation alone?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2007.00333.X

10.1111/J.1601-183X.2007.00333.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17559416%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference