Isolates. Last week, the FinnGen biobank went live, and Nature dedicated an entire issue to the launch of this initiative. In brief, FinnGen is a large Finnish research project providing genomic and clinical data from a Finnish biobank with the aim to provide new insights into human disease. Finland is an isolated population, which offers unique insights into the role of rare variants in disease. When I checked the FinnGen database for association with SCN1A, I was surprised that three missense variants have been associated with various diseases. Here is what a founder population can tell us about the various roles of SCN1A in human disease. Continue reading
Author Archives: Ingo Helbig
The history of epilepsy genetics
Timeline. There are a few factors converging at the moment that motivated me to write this blog post. Our blog is officially 14 years old, a fact that has generated surprise, but also nostalgia over the weekend. Second, we were asked to provide an editorial for an interesting review paper by the Lal group, which data-mined PubMed to characterize the history of epilepsy gene discovery. And third, I have heard too often that our 2016 timeline of epilepsy gene discovery that is often used in presentations is antiquated. Let us provide everybody with an update in this blog post. But first, let’s start with a seemingly easy question: what exactly is an epilepsy gene? Continue reading
The millennium variant – SCN1B, gene validity, and GEFS+
800 years. The discovery of SCN1B as a causative gene for Genetic Epilepsy with Febrile Seizures Plus (GEFS+) was one of the most pivotal moments in epilepsy genetics. This discovery not only shaped our understanding of the channelopathy concept, but also highlighted the importance of careful phenotyping. Therefore, it may be surprising that SCN1B took almost a quarter of a century to accrue sufficient evidence to be considered as a definite epilepsy gene. However, this is not the only aspect where SCN1B operates on its own time scale. In a recent publication, one of the most common disease variants in SCN1B could be traced back more than 800 years to a single founder event. Here is a 2023 update on the journey of one of the most well-known but also most mysterious epilepsy genes whose origins are lost in the depth of time. Continue reading
This was epilepsy genetics in 2022
Looking back. This is our final blog post for 2022 and a good opportunity to look back at what happened in the last 12 months in epilepsy genetics. In brief, it was a busy time and if I were to look back at 2022 in a few years, I would probably characterize this year as a transitional year. Antisense oligonucleotides, gene therapies, and other novel treatments are on the horizon, but the field is not quite there yet. For this blog post, I would like to put the focus on five discoveries in 2022 that did not receive as much attention on our blog as they probably should have. Continue reading
Here are the most frequently read blog posts in epilepsy genetics
2022. In December, our blog passed an important milestone – one million views. Given that Beyond the Ion Channel is a niche blog on epilepsy genetics and pediatric neurogenetics, this is a milestone that we are proud of. In the current post, we would like to examine some of the trends on what people read on our blog. Given that this resource has been around for more than a decade, the topics and genes that people searched for reflect some interesting patterns in the field that may tell us about how information on genetic epilepsy is presented online and what we need to do better. Here are top five most frequently read posts, including some topics that surprised us. Continue reading
AES 2022 – Soundbites from Nashville, Tennessee
Music City. This year’s Annual Meeting of the American Epilepsy Society (AES) took place in Nashville, Tennessee. With a pre-meeting in Memphis and the annual Clinical Skills Workshop as the final event of the annual meeting, our team was able to spend more than a week in the Volunteer State. Yes, there is more than enough music in Nashville and it is virtually impossible to step into a pub, restaurant, or Honky Tonk without live music. Now that my ears have recovered, here is a summary of epilepsy genetics at AES 2022. Continue reading
Walking in Memphis – TARGETing Epilepsy at St. Jude
Memphis, TN. Prior to this year’s AES meeting, the epilepsy genetics community descended upon St. Jude Children’s Research Hospital in Memphis. I had previously largely associated St. Jude with pediatric cancer treatment, but within the last few years, a large-scale pediatric neuroscience program was launched, putting Memphis on the epilepsy genetics map. And with Heather Mefford’s new lab, the program at St. Jude includes one of the major epilepsy genetics groups. While blogging about scientific meetings is always tricky, one particular quote from the first day struck me as particularly relevant for the current state of therapeutic development: “quick, but not too quick”. Here is where the field of epilepsy genetics and precision medicine finds itself at the end of 2022. Continue reading
CACNA1A – five things to know in 2022
Epilepsy genes. It has admittedly been quiet around the gene pages on our blog and many pages require an update. When we initially launched the Epilepsiome pages, we wanted to create a small resource for gene-based information according to the “what you need to know” principle, a condensed digest regarding epilepsy genes written by clinicians and researchers with deep expertise in the field. We chose CACNA1A as the first gene to get an update. The reason for this is the following: Laina has taken on the role of modernizing this blog and CACNA1A is the main condition that she is working on. Here are five things to know in 2022 about CACNA1A. Continue reading
What the beach told me about science in 2022
Rehoboth. In 2013, I started a small segment on our blog that reflected on the summer and my time at the beach, weaving in small anecdotes that happened during my summer vacation. This was nine years ago and I have to admit that I didn’t keep up this annual tradition as well as I could have and I would like to start it up again. Here are my 2022 thoughts about the beach and science and what we learn about biomedical research during the times when we are not actually involved in it. While putting this post together, I realized that this year’s theme is about limitations. So how does a beach vacation relate to limitations and how does this all fit together? Please bear with me. Continue reading
The 2022 STXBP1 Summit – a personal reflection
STXBP1 in Philly. From August 18-20, the STXBP1 community met in the Bellevue Hotel in Philadelphia, the first in-person summit after our initial Philadelphia meeting in 2019. Much has changed since our initial meeting – an entire scientific community has woken up to study one of the most common (and enigmatic) neurodevelopmental disorders, the STXBP1 Foundation has grown significantly in activities and scope, and there are very promising developments in the main therapeutic areas, namely drug development, antisense oligonucleotides, and gene therapy. It is not an exaggeration to say that STXBP1 is on the map in 2022 and it is one of the genes with the fastest growing knowledge. Here are my personal reflections from the 2022 STXBP1 Summit – and I want to thank our entire ENGIN team for their fantastic work during our first Synapse Clinic the day before the Summit. Continue reading
