Exome failures. Trio exome sequencing has the huge potential to discover the genetic basis of neurodevelopmental disorders. However, the results are negative for the majority of patients. In a recent study published in Nature, genome sequencing was applied to exome-negative patients with intellectual disability, identifying mutations in coding regions that were previously missed. But are the authors correct in stating that they can explain more than 60% of cases in an unselected cohort? Continue reading
Category Archives: 2014
Publications of the week – SCN8A, CNTNAP4, EML1, and SCN1A
Catching up. This week’s review of recent publications might be relevant for you because it adds new pertinent details to known epilepsy genes and discusses novel gene findings that might be applicable in clinical practice. This post covers publications on SCN8A in epileptic encephalopathy, CNTNAP4 and interneurons, EML1 in brain malformations, and the meaning of SCN1A variants in small epilepsy families. 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
This is what you will see in epilepsy genetics in the next five years
Welcome to our new blog. We have moved our blog to a new server, and this is the first post on our new platform. Let’s start out this new era with a general overview of what will happen in the field of epilepsy genetics in the next five years. We definitely plan to follow the developments as we did over the last two years. Here are the six things that we will look back upon in five years. Continue reading
Want to learn about epilepsy genetics more effectively? Keep reading…
Demystify. In an earlier post, Ingo blogged about the exciting new Genetic Literacy series that should appear in Epilepsia later in 2014. When we first had the idea at the International Epilepsy Congress in Montreal, we conceived of the Genetic Literacy series as a practical learning resource for practising clinicians and healthcare professionals. We really want to use this opportunity to demystify epilepsy genetics and make this information accessible and useful to readers. Continue reading
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
Epilepsy Genetics Initiative – A Signature Program of CURE from CUREepilepsy on Vimeo.
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
