About Ingo Helbig

Epilepsy genetics researcher at the Division of Neurology at the Children's Hospital of Philadelphia and the Department of Neuropediatrics, University of Kiel, Germany.

What neuronal membranes are made of – CERS1 in progressive myoclonus epilepsy

Ceramide. Sphingolipids are a major component of neuronal membranes and help neurons in intracellular signaling and trafficking. Ceramide is one of the basic building blocks of sphingolipids. In a recent publication in Annals of Neurology, mutations in CERS1, coding for ceramide synthetase, are identified in a family with progressive myoclonus epilepsy – and provides an unexpected linked between a group of storage disorders such as Niemann-Pick disease and Tay-Sachs disease and progressive myoclonus epilepsies. Continue reading

Why you need to know what EGI stands for

 

The Epilepsy Genetics Initiative. If you had told me last week that the next era of epilepsy genetics would be announced by an animated cartoon, I wouldn’t have believed you. Earlier this week, the Epilepsy Genetics Initiative (EGI) was launched, an emerging large exome repository that will help us connect dots in epilepsy genetics research by centralizing genetic data for research. These are the three things that I have learned from the EGI launch. 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

The ARX problem – how an epilepsy gene escapes exome sequencing

Silence. You might wonder why you hear very little about ARX in exome studies these days. The X-chromosomal aristaless related homeobox gene was one of the first genes for epilepsies and brain malformations to be discovered. Mutations in ARX can be identified in male patients with a variety of neurodevelopmental disorders including idiopathic West Syndrome – accordingly, it’s on the differential list for patients with Infantile Spasms without a known cause. Let me tell you about the problems that the ARX gene poses for exome sequencing. Continue reading

Publications of the week – DOCK7, DEPDC5 and the yield of diagnostic gene panels

This week in epilepsy genetics. The following publications are a selection of what was published in the last week. These studies might be relevant for you because they both extend the phenotype of recent gene findings and describe novel genes that you should be aware of. 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

SCN1A – This is what you need to know in 2014

Update. As information on the epilepsies caused by SCN1A mutations are amongst our most frequently read posts, we thought that a quick update on the state-of-the art regarding SCN1A would be timely. These are the ten things about SCN1A that you should known in 2014. Continue reading

Publications of the week: genetics of Infantile Spasms, CERS1, DYRK1A, and hyaluronan

This week in epilepsy genetics. The following publications might be relevant for you, as they demonstrate what happened in the field of epilepsy genetics in the last two weeks. The publications range from basic science studies in extracellular space to novel gene discoveries. I have added a brief comment to each of these studies. Continue reading

Living in a post-linkage world, craving knowledge

Genomics meets linkage. This blog post is about family studies in epilepsy genetics. One of my tasks for the next two months is to write the “Trilateral Grant” – we were invited to submit a full proposal for a German-Israeli-Palestinian grant by the German Research Foundation (DFG) on the genetics of familial epilepsies. As keeping up our blogging schedule will be my other big task for the coming months, I thought that I could combine both and explore some topics regarding family studies on this blog. Let’s start with a sobering fact – small dominant families remain difficult to solve, not because of too little but rather too much genetic data. Continue reading