Clinical relevance. Pathogenic variants in more than 80 genes have been reported in childhood epilepsies over the last two decades. Developing precision therapies that target the underlying genetic changes is a major research focus and holds the promise to positively influence the lives of thousands of people with individually rare, but collectively common genetic epilepsies. However, in order to develop novel therapies, a formal, unbiased framework is needed to define whether the association between certain gene and disease is in fact valid and that a specific variant is truly pathogenic. This task has proven to be much more difficult than initially expected. Within the larger framework of the ClinGen Consortium, our epilepsy expert panel assesses the clinical validity of genes and variants for human epilepsies, starting with gene curation. In the recently published Human Mutation Special Issue on ClinGen/ClinVar, our panel reports our pilot data and reviews what it takes to connect two increasingly separate fields: the domain of traditional clinical epileptology and the rapidly evolving area of diagnostic genetic testing. Brace yourself: 50% of the alleged gene-disease associations evaluated in our pilot phase did not meet the criteria to be considered clinically valid. Continue reading
Tag Archives: epilepsiome
The 2016 Epilepsiome series
Introduction. The Epilepsiome is our community-driven gene curation project. Ever since we last wrote about this project, many discussions have been going on in our community and we have decided to put together a 10-part post series this year to tell you where the journey is headed. Here is what we would like to put together in the first half of 2016. Continue reading
How the Epilepsiome works
Hitting the ground running. With the first 12 Epilepsiome gene reviews up, we want to provide you with a brief update and what we have learned from the experience in the last few months. A number of the new Epilepsiome members have asked us how exactly the gene review process will work and what we expect from them. Here are some of the questions you’ve posed and our answers. Continue reading
These are the 78 genes involved in human epilepsy – a survey
Questionnaire. This week we have a huge favor to ask from you. We need your input on our Epilepsiome project. Please help us prioritize the 60-80 genes that will be part of our ongoing gene review effort. Help us build the Epilepsiome. Your input is needed. Continue reading
We want you to be an Epilepsiome builder
YESTI. On behalf of the ILAE Genetics Commission, we are looking for young clinician scientists who would like to help us build the Epilepsiome – a comprehensive, up-to-date database on epilepsy and genes. We are looking for YESTI’s – “young experts with sufficient time and interest”. Read more about what we would expect from you. Continue reading
Building the Epilepsiome
Wireframe. In this post you will learn about our plans for the Epilepsiome database that is envisioned by the ILAE Genetics Commission. This knowledge database will curate information on epilepsy and genes. Also, it should be up-to-date and written in a straightforward “this is what you must know” style. Basically, the website that you want to go to if you need an update on a given gene or syndrome. But how do you get started on a project like this? Let me start by telling you what a wireframe is. 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