Epilepsy Genetics Meta Analysis Publications

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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of data relating to genetic association studies in the field of epilepsy, collects results from published and unpublished research in epilepsy genetics providing data to be used for meta-analyses and other scientific purposes.


“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.

A meta-analysis is a systematic review with statistical analysis that collects and analyzes information from a group of research studies in a specific topic and with similar characteristics. The meta-analysis measures the average results of these studies, their significance, and their validity.

“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The goal of epiGAD is to collate all association studies in epilepsy, whether published or unpublished.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’ sub search 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). Medscape.com. Retrieved 4 January, 2017. 

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

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

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


Epilepsy Data, Genetics Publications, Epilepsy Disease, Epilepsy Gene, Genetic Associations, Epilepsy Susceptibility, Epilepsy Meta Analysis

Other Titles

Epilepsy Gene Frequencies, GDA Meta Analysis Epilepsy Genetic Association Studies, Genetic Predisposition to Epilepsy Disease, Epilepsy Genetic Variations, Epilepsy Genotype and Phenotype

CasesType of epilepsy cases in the study. Subjects of study.stringrequired : 1
ControlsThe condition of the control subjects. Control subjects are a group of patients that are compared to the subjects of study; this group could be healthy, with a different condition than the cases group or with the same condition but taking a different drug or with a different intervention.stringrequired : 1
GeneShort form or acronym used to describe a specific gene examined in the study.string-
AlleleShort form or acronym used to describe a specific allele examined in the study. An allele is a variant of a gene; as everyone has two copies of every gene in their DNA, one person can have two different alleles of the same gene, as well as only one same allele in both copies. Alleles determine the physical or biological differences between one person and another, as well as, for example, the severity of a disease. In this case, the allele could determine the type of epilepsy of the subjects.string-
Number_Of_CasesTotal Number of case subjects in the studies included in the meta-analysis.numberrequired : 1 level : Ratio
Number_Of_ControlsTotal Number of control subjects in the studies included in the meta-analysis.numberrequired : 1 level : Ratio
Summary_Odds_RatioSummary of Odds Ratio. "An odds ratio (OR) is a measure of association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure." (Szumillas, 2010) In a meta-analysis, the odds ratio is calculated combining the results of all the studies (pooled odds ratio). In this case, the "exposure" would be the gene allele, and the "outcome" would be the type of epilepsy or the presence or absence of epilepsy.string-
Confidence_Interval_9595% confidence interval. If the value 1 is not within the 95% Confidence Interval range, then the Odds ratio is statistically significant.string-
Author1The first author of the meta-analysis article.stringrequired : 1
Publication_YearYear in which the referred meta-analysis was publisheddaterequired : 1
ReferenceWeblink from NCBI website showing reference to the article.stringrequired : 1
TLEHealthy controlsGABBR1G1465A101121845.381.72-16.78Xi2011http://www.ncbi.nlm.nih.gov/pubmed/21621395
TLEHealthy controlsSLC6A4LPR99112020.900.77-1.06Cordoba2012http://www.ncbi.nlm.nih.gov/pubmed/23065262
TLEHealthy controlsSLC6A4VNTR99112021.100.78-1.57Cordoba2012http://www.ncbi.nlm.nih.gov/pubmed/23065262
Febrile convulsionsHealthy controlsIL-1BC511T72812231.3611.065-1.738Wu2012http://www.ncbi.nlm.nih.gov/pubmed/22160471
Epilepsy patientsHealthy controlsABCB1C3435T245415421.070.76-1.51Nurmohamed2010http://www.ncbi.nlm.nih.gov/pubmed/20491876
Epilepsy patientsHealthy controlsSYN2rs3773364 A>G9907631.10.96-1.27Haerian2011http://www.ncbi.nlm.nih.gov/pubmed/21465568
Drug-resistant epilepsyDrug-Responsive epilepsyABCB1C3435T323135241.10.93-1.39Haerian2010http://www.ncbi.nlm.nih.gov/pubmed/20605481
Drug resistant epilepsyDrug responsive epilepsyABCB1multiple haplotypes39614002Non-sig ORHaerian2011http://www.ncbi.nlm.nih.gov/pubmed/21391884
TLEHealthy controlsIL-1BC511T61019301.160.86-1.58Kauffman2008http://www.ncbi.nlm.nih.gov/pubmed/18281914?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum
TLE+HSHealthy controlsIL-1BC511T45219301.481.09-2.0Kauffman2008http://www.ncbi.nlm.nih.gov/pubmed/18281914?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum