Taking the pulse – attitudes towards genetic testing in the epilepsies

Peds vs. adult. On the same day that we pioneered the concept of epilepsy genetics clinic within an adult neurology setting, our survey of attitudes towards genetic testing in adult and pediatric epileptologists came online. How big is the difference in how we perceive the genetic component towards genetic factors in epilepsy in a pediatric and adult neurology setting? Our survey assessing all major epilepsy centers in the US suggests that we are worlds apart. Continue reading

CHD2 – a 2016 update

Updates. Our “Beyond the Ion Channel” blog has been in existence for over 3 years, during which we have seen many advances in our knowledge of epilepsy genetics and done our best to share them with you. We hope that we have contributed to making epilepsy research more understandable. Recently, we have been pondering what we can do to make the emerging Epilepsiome knowledge base more useful for our readers, including clinicians, researchers, and families alike. Read further to see our first round of changes to our Epilepsiome Gene Pages that we have applied to our CHD2 Gene Page. Continue reading

Leaving the Napster age, entering the genomic data sharing economy

Genomic sharing. Let’s compare our state of sharing genomic data to the music industry. We are at a point where we share large datasets between genome centers, occasionally shipping hard drives or using fast upload tools. Still, we are copying and transferring terabytes of data from A to B, making copies of datasets locally in order to have them for our local analysis. A BAM file is only useful if it is present on our server. It is like downloading all the Led Zeppelin albums in the early 2000s through sharing platforms. We are currently in the Napster age of genomic data, amazed how quickly these large datasets tend to clog our server space. Let us revisit what happened to Napster and why our current way of thinking will soon be outdated in what will become the genomic sharing economy. Continue reading

Three Things I’ve Learned from Living with the Channelopathist

Today is a big day here at Beyond the Ion Channel – it’s Ingo’s birthday. I clearly remember celebrating Ingo’s birthday a decade ago, while we were living and working together in Melbourne. Back then, life was a little simpler. We were just beginning our careers together at the Epilepsy Research Centre and were a little more fresh faced and greener behind the ears. The GGEs were still the IGEs. Mutation screening was done via dHPLC. Family studies were still the way to go. Genetics was largely confined to the research realm and not a possibility for most patients in clinical practice. A lot has changed in epilepsy genetics in 10 years, and I have been fortunate to have my career run alongside Ingo’s during that time, sometimes running parallel to his and sometimes intertwining. We’ve learned a lot from each other. So what do you give someone like Ingo for his birthday? A blog post, of course. But don’t worry, it won’t be overly sentimental. As Ingo mentioned before, that’s not our style. Here are three things I’ve learned about epilepsy genetics from Ingo over the last ten years. Continue reading

The two dimensions of STXBP1 – a 2016 update

Synaptic. This is STXBP1 week and things are currently happening in rapid succession. We are getting ready for the first STXBP1 Charity Ball and our publication in Neurology reviewing the phenotypic features of 147 patients recently came online. STXBP1 is one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders. However, in contrast to SCN1A, SCN2A, CDKL5, or SCN8A, it has received relatively little attention in the past from the epilepsy community. Let’s revisit a common epilepsy gene that holds more secrets than most people would imagine. Continue reading

Introducing EpiGC – a guest post

School days, school days, dear old golden rule days. It has been over two decades since I completed my training as a genetic counselor, but there are several families that I will always remember and find myself frequently talking about when I train students or discuss counseling issues with colleagues. One of them was a young couple, both with mild intellectual disability and epilepsy, expecting their first child.

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Familial epilepsies revisited – the big picture

Family genetics. The analysis of epilepsy families helped jumpstart the field of epilepsy genetics by identifying SCN1A and several other epilepsy genes in the late 1990s. However, more recently, gene discovery in familial epilepsies has been overshadowed by the explosion of gene identifications in sporadic epileptic encephalopathies. A recent publication in Neurology now reviews the results of a decade-long endeavor to characterize familial epilepsies in Israel and Palestine. Find out why we are far from understanding the majority of familial epilepsies, why GGE/IGE families are the main problem, and what the “familial four” are.

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Five almost forgotten blog posts that are relevant in 2016

Happy 400. Even though I have to admit that my blogging speed has decreased considerably over the last 18 months, we managed to celebrate a small milestone last week. We published blog post #400. As there are highly popular and virtually forgotten blog posts, I wanted to use this opportunity to draw your attention to five blog posts out there that you might want to know about. Continue reading

Research parasites and symbiotes

Parasitic. In the dramatic language that was somewhat reminiscent of the current US primaries, the New England Journal of Medicine warned of an emerging class of researchers referred to as research parasites, researchers who had nothing to do with an initial study, but re-analyze data without being connected to the initial study design, possibly for their own purposes. The NEJM editorial was accompanied by a call for collaborative research on a coordinated basis rather than analyzing data without working with the researchers who were initially involved in the generation of the data. Let’s discuss whether genetics is currently under threat from research parasite infestation and whether this may actually be a good thing. Continue reading