Epilepsiome. Within the new structure of the ILAE Genetics Commission, the Epilepsiome has become a Task Force for the current term. Our blog has accompanied the developments in the field of neurogenetics for the last seven years and has seen the rise of next-generation sequencing and formal gene and variant curation frameworks. This has left us with a basic question: what is left to say? Should the future Epilepsiome simply chronicle what is happening in the field or should we try to use our platform to develop novel and potentially provocative thoughts? Within the current Epilepsiome Task Force, we decided to try the latter. There has been much attention paid to, and understandably much excitement about, the prospect of targeted precision treatments based on specific gene mutations. But could this be a Potemkin village based on unrealistic treatment expectations? What else is happening in the field of epilepsy genetics, outside the spotlight? We agreed that the new Epilepsiome Task Force will strive to emphasize a richer, globally oriented, and multifaceted view of the genetic basis of human epilepsies and neurodevelopmental disorders. Here are the three things that our Task Force hopes to accomplish. Continue reading
Tag Archives: ILAE
The top three publications in epilepsy genetics 25 years ago
Looking back. In this week’s ILAE Genetics Commission post, we would like to look 25 years back and examine the most important publication in the field in 1989, the year the Berlin wall fell. What concepts did we have back then and how did our understanding of epilepsy and genes change? Here are the top three publications of 1989. Continue reading
Three reasons why we need a new genetic literacy to understand epilepsy
ILAE Genetic Commission weekly. As you might already know, Beyond the Ion Channel has become the official blog of the Genetics Commission of the International League Against Epilepsy. Starting with this post, we would like to publish a weekly post about the issues relevant to what the ILAE-GC does. We’ll kick off this new segment by telling you about the reasons behind the Genetic Literacy Series that is currently in the works. This series of 10 papers will appear this year and next in Epilepsia. Continue reading
Three reasons why we need a new genetic literacy to understand epilepsy
ILAE Genetic Commission weekly. As you might already know, Beyond the Ion Channel has become the official blog of the Genetics Commission of the International League Against Epilepsy. Starting with this post, we would like to publish a weekly post about the issues relevant to what the ILAE-GC does. We’ll kick off this new segment by telling you about the reasons behind the Genetic Literacy Series that is currently in the works. This series of 10 papers will appear this year and next in Epilepsia. Continue reading
Five questions you should be asking the ILAE Genetics Commission
Five questions. We are now part of the new Genetics Commission of the International League Against Epilepsy (ILAE), as we already indicated in an earlier post. Here’s what you can expect from the Commission over the course of the next four years. Continue reading
What’s in a phenotype? – the EuroEPINOMICS BENCH database
The backbone. As we have started a new round for BENCH introductory sessions with new collaborators, I thought that it might be timely to talk a little bit about our BENCH phenotype database and the concepts behind it. In addition to the purely technical aspects, there is a more fundamental question behind this: how do we want to document and store epilepsy phenotypes for research purposes, how do we find the balance between precision and efficiency? Continue reading
