Gene of the year. Let’s take a minute to look back at the very busy year of 2013. There were major advances in many areas of epilepsy genetics. First and foremost, massive (and I mean massive) progress has been made in the genetics of the epileptic encephalopathies, where de novo mutations have been identified as a major source of genetic morbidity. Secondly, the new technologies have made it possible to identify several novel genes for various epilepsy types. Out of these genes, we have again selected the most important finding in 2013. And the gene finding of the year is…
…DEPDC5. The choice of the gene finding of the year was not easy given the plethora of gene identification in the field in 2013. We eventually selected DEPDC5, the long-sought gene for Familial Focal Epilepsy with Variable Foci for the following reasons: (1) the gene solved a decades-long riddle with respect to the possible genetic basis of this rare familial epilepsy syndrome. Part of me had already given up hope that this gene could be discovered at all; (2) Given the link with the mTOR pathway, there is an unexpected connection between non-lesional focal epilepsies and the mechanisms underlying focal cortical dysplasias and Tuberous Sclerosis Complex; (3) Mutations in DEPDC5 might be more common that expected and might be found in a significant subset of cases.
The top three posts of 2013. The end of the year is also a good opportunity to look back at the three most popular posts this year. The most frequently read post this year was our post on SCN9A variants as modifiers in Dravet Syndrome. The interest in this post reflects the growing interest in modifier genes, and we will write more about this in early 2014. Just to let you know in advance; finding modifier genes won’t be easy and is technically challenging. The second most popular post was our write-up on a classification of de novo mutations in epileptic encephalopathies. The Epi4K publication on de novo mutations in epileptic encephalopathies has put Infantile Spasms and Lennox-Gastaut Syndrome on the map. At the same time, we are confronted with a growing flood of genetic findings that we need to make sense of. This tension between increasing availability of genetic data and increasing difficulties in distinguishing signal from noise will be one of the recurring themes of 2014. Our third most popular post in 2013 was our summary of 10 strategies to get papers out faster. This post was a good reminder that the Channelopathist is also a blog about the life of a scientist in the field of epilepsy genetics. This post was mainly targeted at the younger generation of scientists. And I am happy to let you know that both papers that I have featured as examples were finally accepted and are published. However, it wasn’t as easy as I had expected. Still, I think that the 10 strategies that I have listed are worth giving a shot.
The top three search terms of 2013. Our blogging platform allows us to track search engine terms that lead people to the posts on our blog. Besides the obvious search terms, these three genes were the most frequently searched terms on epilepsy genetics cyberspace: (1) SCN2A. The SCN2A gene is one of the most perplexing genes of the last two years. Initially a gene for Benign Familial Neonatal-Infantile Seizures, it was rediscovered as a gene for autism and, in 2013, a gene for epileptic encephalopathies. This was completely unexpected. (2) LGI1. This gene for familial lateral temporal lobe epilepsy was only covered in a single R.E.M.-themed post. Nevertheless, there is apparently a need for information on this gene for a rare familial epilepsy syndrome. (3) 16p13.11. This search term in many different variations was a popular key word that led readers to one of several posts on microdeletions. Even though 2013 was the year of de novo mutations identified through exome sequencing, this relatively common structural genomic variant is still important.
What to expect from us in 2014. There will be many changes on this blog in 2014. Most importantly, in parallel to the end of the EuroEPINOMICS funding period, we will transition the Channelopathist into the blog of the Genetics Commission of the International League Against Epilepsy (ILAE). Accordingly, we are looking for a new name, since “Channelopathist” might be a bit outdated. More on this in a future post, as this transition will only be one part of a comprehensive strategy to make epilepsy genetics more accessible. Either way, the blog will be continued and will hopefully also cover additional topics. Finally, we are very happy to have Dennis (papers of the week) and Katja (epigenetics) as new authors on the blog.
Finally, we would also like to thank all our readers in 2013 and we are looking forward to an exciting and productive 2014.