GWAS. Febrile seizures affect up to 5% of all children between six months and six years and are by far the most common seizure type. While seizures in the setting of fever may be a manifestation of an underlying epilepsy, in the majority of cases, children only have one or two febrile seizures in their lifetimes. We know from twin studies that there is a strong genetic component to febrile seizures, and you might think that we would know more about the most common seizure type. However, this has not been the case until recently. The genetics of febrile seizures have been largely understudied, and we know much more about the genetics of rare epilepsies than about the genetics of febrile seizures. A recent genome-wide association study has been a game changer, highlighting a combination of fever response genes and neuronal genes in the etiology of febrile seizures. Continue reading
Tag Archives: ANO3
These are the top 10 epilepsy genes of 2014
Top 10. 2014 has been a very productive year in epilepsy gene discovery and with our final blog post this year, we wanted to provide a brief overview of what has been pertinent this year. From the multitude of novel genes identified this year, here are the 10 most relevant findings – including some genes that you probably didn’t expect. Continue reading
From zero to one hundred in the genetics of Febrile Seizures
Finally. Only a few months ago, we wondered what happened to the genetics of Febrile Seizures, given that there was a paucity of publications in this field. Now, a recent publication in Nature Genetics presents the first well-powered genome-wide association study in Febrile Seizures in almost 2,000 patients, including a large subgroup of patients with Febrile Seizures after MMR vaccinations. The authors provide compelling evidence for common variants in known epilepsy genes. However, the strongest genetic risk for Febrile Seizures is in a known disease gene that nobody expected. Continue reading
