Launch. This week, the Epilepsy Genetics Initiative (EGI) was launched. EGI was founded by Citizens United for Research in Epilepsy (CURE) and represents a large database for diagnostic and research exomes that will guarantee regular re-analysis of exome data, which is particularly relevant for the large number of exomes that we think are negative. Here is a brief blog post why all exomes should eventually find their way into EGI. Continue reading
Tag Archives: EPICURE
Standing on the shoulders of giants: the EPICURE GWAS on Idiopathic Generalized Epilepsy
Pushing the reset button. The history of epilepsy genetics can broadly be distinguished into two major eras: the time before September 4th, 2012 and everything after this. September 4th, 2012 was the date that the first large genome-wide association study in IGE/GGE was published online in Human Molecular Genetics. Each of the >100 association studies in IGE listed in PubMed is now dated and needs to measure up against the current study, which will likely be remembered as the “EPICURE study”. The results of the EPICURE study are surprising and upset our conventional wisdom of what causes one of the most common forms of epilepsy. Continue reading
