“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The goal of epiGAD is to collate all association studies in epilepsy, whether published or unpublished.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.