Epilepsy Susceptibility Genes Published and Unpublished Research

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The Epilepsy Genetic Association Database (epiGAD) of the International League Against Epilepsy is an online repository of data relating to genetic association studies in the field of epilepsy, collects results from published and unpublished research in epilepsy genetics providing data to be used for meta-analyses and other scientific purposes.

Complexity

“Epilepsy is defined as a brain disorder characterized by an enduring predisposition to generate … seizures.” (1) The causes of epilepsy can vary, but there are genetic syndromes that can cause epilepsy, such as metabolic diseases and specific gene mutations. Even though there is known of some specific genetic diseases that can cause epilepsy, the majority of cases are of unknown cause, for which research efforts exist on finding a cause, mainly focused in finding genetic alterations in epileptic patients. Among the different types of epilepsy, drug-resistant epilepsy (where seizures don’t cease with any of the available medications) is of major concern and research focuses on finding the characteristics of the genes linked to it. Epilepsy with a familial pattern is also a field of genetic study.

The National Cancer Institute describes gene susceptibility as “An inherited increase in the risk of developing a disease. Also called genetic predisposition”, meaning that the presence of a gene or a variant of a certain gene makes an individual prone to develop a disease or condition.

“A genetic association study is, in essence, a case-control study (Hattersley et al, Lancet 2005) It examines the frequency of an allele in a particular gene in patients with the disease, compared against controls. Genetic association studies have proliferated in the past 5 years, particularly in the field of epilepsy, with the aim of understanding the common genes and polymorphisms that may increase the risk of common epilepsies. Results of such studies have however been inconsistent (Tan et al, Epilepsia 2004)

The goal of epiGAD is to collate all association studies in epilepsy, whether published or unpublished. This will help researchers in this area identify all the available gene-disease associations, as well as facilitate future meta-analyses and studies on publication bias (Munafo et al, Trends Genet 2004). It is also hoped that epiGAD will foster collaboration between the different epilepsy genetics groups around the world, and facilitate the formation of a network of investigators in epilepsy genetics (Ioannidis et al, Am J Epi 2005) epiGAD is funded by NMRC, Singapore, and also through an educational grant from UCB Pharma.

There are 4 databases within epiGAD:
– the susceptibility genes database
– the epilepsy pharmacogenetics database
– the meta-analysis database
– the genome-wide association studies (GWAS) database”

“Publications were primarily identified using a Pubmed search. Additional searches were done using HuGE Net, Google Scholar and ISI Web of Science. Genetic association studies identified with the first-pass search terms were then used as the basis for the ‘Related Articles’ subsearch in Pubmed. Subsequent studies identified were then used for ‘Related Articles’ for 2 more iterations. Data from the identified studies were extracted in a standardized manner and included in epiGAD.”

1. David y ko, D.Y.K. (2017). Medscapecom. Retrieved 4 January, 2017

Description source: Epilepsy genetic association database, E.P.I.G.A.D. (2016). Epigad.org. Retrieved 11 November, 2016.

Date Created

2009-01-31

Last Modified

2014-08-31

Version

2017-07-14

Update Frequency

Irregular

Temporal Coverage

2007-2014

Spatial Coverage

World

Source

John Snow Labs; Epilepsy Genetic Association Database (epiGAD);

Source License URL

Source License Requirements

N/A

Source Citation

Epilepsy genetic association database, E.P.I.G.A.D. (2016). Epigad.org. Retrieved 11 November, 2016.

Keywords

Epilepsy Data, Genetics Publications, Epilepsy Disease, Epilepsy Gene, Genetic Associations, Epilepsy Susceptibility, Epilepsy Meta Analysis, Epilepsy Susceptibility Genes, Epilepsy Published and Unpublished Researches

Other Titles

Epilepsy Gene Frequencies, GDA Epilepsy Susceptibility Genes, Genetic Predisposition to Epilepsy Disease, Epilepsy Genetic Variation, Epilepsy Genotype and Phenotype

NameDescriptionTypeConstraints
Broad_PhenotypeType of seizure presented by the patients in the study. The seizures can be Generalized (in the whole body), Focal (in one part of the body, e.g. one arm), and febrile convulsions (originated due to fever). A phenotype is the result of the genetic information, in this case, the phenotype is the type of seizure.string-
Narrow_PhenotypeName or initials of the specific epilepsy syndrome that originate the convulsions.string-
Gene_FamilyGene family, as defined by the HUGO Gene Nomenclature Committee. This states the type of protein codified by the gene, for example, the gene AQP4 has the code for one of the proteins that form the channels that allow the transit of water out and into the cells, thus the gene belongs to the "water channels" family.string-
GeneName of the studied gene as defined by the HUGO Gene Nomenclature Committee.stringrequired : 1
AlleleThe variant of the gene that causes the susceptibility.stringrequired : 1
Number_Of_CasesThe number of subjects included in the study of the disease of interest.integerrequired : 1 level : Ratio
Number_Of_ControlsThe number of control subjects. Control subjects are a group of patients that are compared to the subjects with the disease; this group could be healthy, with a different condition than the cases group or with the same condition but with different characteristics.integerrequired : 1 level : Ratio
Control_SourceThe type of controls used - population-based (P), family-based (F), or both (PF). If both are used (PF), the number of cases and controls shown will be the number used for the population-based analysis.stringrequired : 1
Country_Of_OriginThe geographic origin of the study patients.stringrequired : 1
P_ValueStatistical significance of the results of the study. A p-value less than 0.05 means that the results were significant.stringrequired : 1
Author1The first author of the article usedstringrequired : 1
Publication_YearYear in which the referred article(s) were publisheddaterequired : 1
ReferenceWeblink from NCBI website showing reference to the articlestringrequired : 1
Broad_PhenotypeNarrow_PhenotypeGene_FamilyGeneAlleleNumber_Of_CasesNumber_Of_ControlsControl_SourceCountry_Of_OriginP_ValueAuthor1Publication_YearReference
FocalTLEApoEe4735558PChina0.667Fu2010http://www.ncbi.nlm.nih.gov/pubmed/20810250
FocalMTLEC3GF100472122196PSpain0.17Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalMTLEC3rs339392122196PSpain0.538Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalMTLEC3rs428453122196PSpain0.417Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalMTLEC3rs344550122196PSpain0.466Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalMTLEC3rs379527122196PSpain0.371Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalTLEASIC1ars844347560401PChina0.004Lv2011http://www.ncbi.nlm.nih.gov/pubmed/21664108
FocalMTLEC3rs2230199122196PSpain0.944Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalMTLE-HS+C3rs34455057196PSpain0.53Jamali2010http://www.ncbi.nlm.nih.gov/pubmed/20862287
FocalTLE - 491A/TT alleles735558PChina0.317Fu2010http://www.ncbi.nlm.nih.gov/pubmed/20810250