(Q37470667)

20 August 2017

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. (English)

1 reference

childhood absence epilepsy

20 August 2017

1 reference

1 reference

13

Renzo Guerrini

1 reference

20 August 2017

Barry A Chioza

1

1 reference

20 August 2017

Jean Aicardi

2

1 reference

20 August 2017

Harald Aschauer

3

1 reference

20 August 2017

Oebele Brouwer

4

1 reference

20 August 2017

Petra Callenbach

5

1 reference

20 August 2017

Athanasios Covanis

6

1 reference

20 August 2017

Joseph M Dooley

7

1 reference

20 August 2017

Olivier Dulac

8

1 reference

20 August 2017

Martina Durner

9

1 reference

20 August 2017

Orvar Eeg-Olofsson

10

1 reference

20 August 2017

Martha Feucht

11

1 reference

20 August 2017

Mogens Laue Friis

12

1 reference

20 August 2017

Marianne Juel Kjeldsen

14

1 reference

20 August 2017

Rima Nabbout

15

1 reference

20 August 2017

Lina Nashef

16

1 reference

20 August 2017

Thomas Sander

17

1 reference

20 August 2017

Auli Sirén

18

1 reference

20 August 2017

Elaine Wirrell

19

1 reference

20 August 2017

Paul McKeigue

20

1 reference

20 August 2017

Robert Robinson

21

1 reference

20 August 2017

R Mark Gardiner

22

1 reference

20 August 2017

Kate V Everett

23

1 reference

20 August 2017

17 October 2009

1 reference

20 August 2017

1 reference

20 August 2017

87

1 reference

20 August 2017

2-3

1 reference

20 August 2017

247-255

1 reference

Genetic mechanisms in idiopathic epilepsies

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Linkage and association analysis of CACNG3 in childhood absence epilepsy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Efficiency and power in genetic association studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Diversity of inhibitory neurotransmission through GABA(A) receptors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Haploview: analysis and visualization of LD and haplotype maps

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Association between genetic variation of CACNA1H and childhood absence epilepsy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Genome search for susceptibility loci of common idiopathic generalised epilepsies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

A test for linkage and association in general pedigrees: the pedigree disequilibrium test

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Allele-sharing models: LOD scores and accurate linkage tests

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Concepts of absence epilepsies: discrete syndromes or biological continuum?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

A common intronic variant of CXCR3 is functionally associated with gene expression levels and the polymorphic immune cell responses to stimuli

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Linkage strategies for genetically complex traits. I. Multilocus models

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Correcting for a potential bias in the pedigree disequilibrium test

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Genotype‐based association test for general pedigrees: The genotype‐PDT

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Epileptic seizures and syndromes in twins: the importance of genetic factors

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Epilepsies in twins: genetics of the major epilepsy syndromes.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

A class of tests for linkage using affected pedigree members

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2791882

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19837565

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Possible association between childhood absence epilepsy and the gene encoding GABRB3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19837565

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19837565

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.EPLEPSYRES.2009.09.010

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19837565

1 reference