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
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
EIEE1-19. Online Mendelian Inheritance in Man (OMIM) is one of the most frequently accessed online databases for information on genetic disorders. Genes for epileptic encephalopathies are organized within a phenotypic series entitled Early Infantile Epileptic Encephalopathy (EIEE). The EIEE phenotypic series currently lists 19 genes (EIEE1-19). Let’s review the evidence for these genes as of 2014. Continue reading
Time flies by. Last week, we have had the final General Assembly of the EuroEPINOMICS project in Tuusula, Finland. All four projects of the EuroEPINOMICS consortium presented the current, ongoing projects and it’s good to hear that there are multiple publications in various stages coming up. Over the three years of the consortium, the diverse groups grew closer together. During this meeting many unpublished results were shown, including extension of studies on genes such as HCN1, CHD2, GRIN2A, GRIN2B or RBFOX1 as well as more data on epigenetics in acquired epilepsy.