Looking back at 2012 – The year in epilepsy genetics

Concluding remarks. 2012 was an exciting year in epilepsy genetics with many surprises in the field. During this final post of this year, we would like to look back at our posts of the year, summarizing the post that received the most attention and also summarizing the posts that we didn’t write. Continue reading

Red Johanna Day – The signal and the noise

Predictions. December 17th is the day that I consider my annual anniversary in epilepsy genetics. Exactly eight years ago, I was still a student in my final med school year and went to Australia for a job interview. We took a road trip over the weekend and on the evening of the 17th, I was reading Nigel Tan’s review on epilepsy genes aptly entitled The truth is out there while sitting in a rock pool at Red Johanna Beach, a surfing beach at the Great Ocean Road south of Melbourne. Looking back, I think this was one of the few publications that helped me make sense of all the literature on epilepsy association studies. I thought that I would like to be able to write something like this while shivering in the waters of the Bass Strait that are always a little bit too cool. Today, sitting in the cozy warmth of our apartment in Kiel, I have finished reading Nate Silver’s book The Signal and the Noise, a book about making sense of data and predictions. Eight years later, are we any closer to the truth that is out there? Continue reading

A brief reflection on the Nobel Peace Prize for the European Union

How do you feel as a Nobel laureate? For the few of us who aspire to be Nobel laureates one day, there is news for you. You already won it. The Nobel Peace Prize to the EU might not have been the award and format that you were initially thinking about, but despite all the hardships and difficulties that the life of a scientist puts you through, it is difficult to dismiss that the Europe we are working in right now is much different from the continent that our parents and grandparents knew. This became clear to me on my recent trip to Strasbourg. Continue reading

The cat in the bag

And the hairball. What is the value of network analysis of genetic data except for being an undefined label for any work including the use of external data sources for the evaluation of hmm, some genetic data? Let’s be specific: what is the value of this recent high-profile paper in Nature Neuroscience describing the distribution of variants in a schizophrenia network? Continue reading

De novo mutations in Infantile Spasms and Lennox-Gastaut Syndrome

Quantum leap. At the Annual Meeting of the American Epilepsy Society, the Epi4K consortium presented the first data on exome sequencing in epileptic encephalopathies. This data is the most exciting finding in the field of epilepsy genetics in 2012 so far, as it provides a deep insight into the genetic architecture of Infantile Spasms (IS) and Lennox-Gastaut Syndrome (LGS). With the findings presented by the Epi4K collaborators, the epileptic encephalopathies are joining a group of neurodevelopmental disorders with a significant burden of de novo mutations.  However, there are important differences that set both IS and LGS apart from diseases like autism, intellectual disability and schizophrenia. Continue reading

CASK aberrations in Ohtahara syndrome

Suppression-burst. Ohtahara Syndrome is a rare epileptic encephalopathy with onset in the first weeks of life. The typical EEG feature of Ohtahara Syndrome is suppression-burst activity, suggesting a profound disruption of cerebral function. Ohtahara Syndrome can be caused by severe brain malformations and neurometabolic disorders. In addition, mutations in ARX and STXBP1 are known causes of Ohtahara Syndrome. In a recent publication in Epilepsia, genetic alterations in CASK were identified in patients with Ohtahara Syndrome and cerebellar hypoplasia. Given that CASK mutations are the known cause for a complex X-chromosomal disorder, this report provides us with an interesting example of what happens when genes underlying distinct clinical dysmorphology syndromes cross over to the epilepsies. Continue reading

Missed SCN1A mutations in Dravet Syndrome – a matter of degrees

Back from AES. I have just come back from the 66th Annual Meeting of the American Epilepsy Society and I would like to share some of the most recent findings that were presented at this meeting. Since we felt that our presentation on the “re-discovery” of SCN1A mutations in SCN1A-negative patients with Dravet Syndrome received quite some attention, I thought that I would share this part of our presentation as a brief screencast. In particular, I would like to thank Anna-Kaisa Anttonen and Anna-Elina Lehesjoki for providing us with the trace files. And of course thanks to everybody in RES who was involved in this.