2015 in review. This year has been a very busy year on Beyond the Ion Channel and this is my time to thank our contributors and readers. This blog and the Epilepsiome project have become an essential part of what I am doing. I am very thankful for all the feedback and advice that I have received this year. We have also finally launched the Epilepsiome project this year, the gene curation project of our epilepsy genetics community. As a summary of 2015, we have put together a summary of the most popular posts of 2015. Continue reading
The holiday season. On Dec 25th, I was forced to disable the long-range communication device of the Stellosphere – and all I had was a simple screwdriver. It was a tough choice, but when you’re out there by yourself, you have to make bold choices. If you now believe that I have a MacGyver-like engineer skillset, I hate to disappoint you. All I did was take out the batteries of one of the toys that our kids got for Christmas so it would stop making noise every time you touch it. Here are the three books that I am trying to read over the holiday season. I probably won’t get through them completely as I want to spend as much time with my family as possible, but here is what they have told me about epilepsy genetics so far. Continue reading
Issue 12/2015. This issue of our publications of the week is about two new candidates for familial epilepsies and a study about the phenotypic range of one of our novel epilepsy genes. Also, I wanted to add a brief update on the progress of our Epilepsiome project.
Family studies. In July 2015, we launched a German-Israeli-Palestinian collaborative project on familial epilepsy in Israel and Palestine. This project is supported by a specific funding mechanism by the German Research Foundation (DFG) called the Trilateral Grant. I thought that I would introduce the project to you, and let you know how we are planning to overcome our current crisis in family studies. Also, find out why I initially planned to write about Beethoven. Continue reading
Issue 9/2015. This issue of the publications of the week is about novel genetic findings for neurological disorders that we usually don’t discuss on our blog. Given that there were several reports this week, I thought that thinking a bit outside the box would be a good theme for this week. Follow us on a brief journey of novel genes for Alzheimer’s disease, essential tremor, and agenesis of corpus callosum.
Issue 8/2015. This week’s review of the relevant publications in the field is about a novel risk factor for focal epilepsies, a gene involved in mRNA transport from the cell nucleus, and a small, confirmatory study on exome sequencing in Infantile Spasms.
Variant annotation. In both clinical practice and within existing research projects, we’re often faced with the issue of telling whether a given variant is benign or whether it is pathogenic. In silico prediction tools are designed to help this decision making process. However, there are so many of them and it is often hard to assess which tool works best. In a 2014 publication in Nature Genetics, the CADD score was introduced as comprehensive tool that aims to take the results of many known prediction tools into account. Follow me on a journey that takes us on hyperplanes, support vector machines and every possible variant in the human genome. Continue reading
Protocadherin. There are some genes that we have mentioned less frequently on our blog than we should have. PCDH19 and CDKL5 are two examples of this. With this post, we try to catch up by reviewing some of the new findings related to PCDH19 Female Epilepsy including the role of neurosteroids, anti-NMDA receptor antibodies, stiripentol and the mechanism behind this epilepsy. Continue reading
Issue 7/2015. I am realizing that we are a little behind with our weekly paper review and I hope that we can use the month of July to catch up. Our publications of the week include functional studies on CDKL5 targets that may suggest future therapy development, the recessive/de novo paradox of KIF1A and an attempt to understand the genetics of familial cortical tremor. Continue reading
Founder variant. Specific language impairment (SLI) is a common neurodevelopmental disorder, presenting as delays in acquiring language skills in children who have no hearing loss or other developmental delays. There is a strong genetic component, but the genetic architecture of SLI is entirely unknown. In a recent publication in PLOS Genetics, exome sequencing is performed in the founder population of the Robinson Crusoe Island where SLI is common. Using a combination of exome sequencing and association study, the autors identify a variant In NFXL1 as a plausible candidate for language delay. Continue reading