Others titles
- Epilepsy Gene Frequencies
- GDA Epilepsy Susceptibility Genes
- Genetic Predisposition to Epilepsy Disease
- Epilepsy Genetic Variation
- Epilepsy Genotype and Phenotype
Keywords
- Epilepsy Data
- Genetics Publications
- Epilepsy Disease
- Epilepsy Gene
- Genetic Associations
- Epilepsy Susceptibility
- Epilepsy Meta Analysis
- Epilepsy Susceptibility Genes
- Epilepsy Published and Unpublished Researches
Epilepsy Susceptibility Genes Published and Unpublished Research
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of data relating to genetic association studies in the field of epilepsy, collects results from published and unpublished research in epilepsy genetics providing data to be used for meta-analyses and other scientific purposes.
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Description
“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.
About this Dataset
Data Info
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 |
N/A |
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 |
Data Fields
Name | Description | Type | Constraints |
---|---|---|---|
Broad_Phenotype | Type 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_Phenotype | Name or initials of the specific epilepsy syndrome that originate the convulsions. | string | - |
Gene_Family | Gene 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 | - |
Gene | Name of the studied gene as defined by the HUGO Gene Nomenclature Committee. | string | required : 1 |
Allele | The variant of the gene that causes the susceptibility. | string | required : 1 |
Number_Of_Cases | The number of subjects included in the study of the disease of interest. | integer | level : Ratiorequired : 1 |
Number_Of_Controls | The 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. | integer | level : Ratiorequired : 1 |
Control_Source | The 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. | string | required : 1 |
Country_Of_Origin | The geographic origin of the study patients. | string | required : 1 |
P_Value | Statistical significance of the results of the study. A p-value less than 0.05 means that the results were significant. | string | required : 1 |
Author1 | The first author of the article used | string | required : 1 |
Publication_Year | Year in which the referred article(s) were published | date | required : 1 |
Reference | Weblink from NCBI website showing reference to the article | string | required : 1 |
Data Preview
Broad Phenotype | Narrow Phenotype | Gene Family | Gene | Allele | Number Of Cases | Number Of Controls | Control Source | Country Of Origin | P Value | Author1 | Publication Year | Reference |
Focal | TLE | potassium channels | KCNJ10 | Multiple SNPs | 218 | 181 | P | Norway | >0.009 | Heuser | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/19864112 |
Focal | TLE | proteinase family | MMP-9 | Multiple SNPs | 218 | 181 | P | Norway | >0.165 | Heuser | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/20605480 |
Focal | TLE | water channels | AQP4 | Multiple SNPs | 218 | 181 | P | Norway | <0.05 | Heuser | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/19864112 |
Generalized | JME | glutamate receptors | GRM4 | 17 SNPs | 215 | 733 | P | Germany | >0.0106 | Muhle | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/20338729 |
Generalized | IGE | glutamate receptors | GRM4 | 17 SNPs | 564 | 733 | P | Germany | >0.0036 | Muhle | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/20338729 |
Generalized | CAE | glutamate receptors | GRM4 | 17 SNPs | 175 | 733 | P | Germany | >0.0021 | Muhle | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/20338729 |
Focal | TLE | BDNF | Val66Met | 101 | 104 | P | Brazil | 0.88 | Bragatti | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/19896331 | |
Generalized | BFIC | leucine-rich repeat LGI family | LGI4 | 12 SNPs | 15 | 96 | P | Japan | >0.0415 | Ishii | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/19815358 |
Generalized | BFNC | leucine-rich repeat LGI family | LGI4 | 12 SNPs | 25 | 96 | P | Japan | >0.3139 | Ishii | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/19815358 |
Febrile Seizures | FS | GABA receptors | PRIP1 | rs770657 | 249 | 225 | P | Japan | >0.11 | Kira | 2010 | http://www.ncbi.nlm.nih.gov/pubmed/19854014 |