Susceptibility genes for complex epilepsy (Q36294697)

13 August 2017

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title

Susceptibility genes for complex epilepsy (English)

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13 August 2017

Samuel F Berkovic

4

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Ingrid Scheffer

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2

object named as

Ingrid E Scheffer

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Leanne Dibbens

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5

object named as

Leanne M Dibbens

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13 August 2017

John C Mulley

1

1 reference

PubMed ID

16244322

13 August 2017

Louise A Harkin

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3

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13 August 2017

1 October 2005

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13 August 2017

Human Molecular Genetics

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13 August 2017

14 Spec No. 2

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13 August 2017

R243-9

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Epilepsies in twins: genetics of the major epilepsy syndromes.

13 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Genomewide scans of complex human diseases: true linkage is hard to find

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

How mutations in the nAChRs can cause ADNFLE epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Molecular basis of an inherited epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

Characterization of single-nucleotide polymorphisms in coding regions of human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

On the allelic spectrum of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Linkage disequilibrium and the mapping of complex human traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

The complex interplay among factors that influence allelic association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Genome-wide association studies for common diseases and complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Are rare variants responsible for susceptibility to complex diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Genetic variation of CACNA1H in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

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/10.1093%2FHMG%2FDDI355

The genetics of human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Bioinformatics for the 'bench biologist': how to find regulatory regions in genomic DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Estimating rates of alternative splicing in mammals and invertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

'Racial' differences in genetic effects for complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Channelopathies as a genetic cause of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Inherited Channelopathies Associated with Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

Monogenic idiopathic epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI355

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI355

1 reference

13 August 2017

1 reference

PubMed ID

16244322