The Rares. The increasing number of genetic diagnoses in rare epilepsies has resulted in the formation of a large number of non-profit organizations and support groups over the last decade. These support organizations for rare epilepsies (“Rares”) have already had an important impact on the epilepsy genetics field. However, the overall impact, direction, and needs of the Rares have never been assessed systematically. In a recent editorial, Ilene Penn Miller summarized the findings of the Rare Epilepsy Landscape Analysis (RELA), which surveyed 44 advocacy and support organizations for rare epilepsies. Continue reading
Monthly Archives: September 2020
The SCN1A rs6732655 enigma – a reply
rs6732655. I acknowledge that the title of this blog post looks like my keyboard is broken, but please bear with me. Last month, I blogged about a recent genome-wide association by the BioBank Japan (BBJ), discussing the evidence for a Single Nucleotide Polymorphism (SNP) in the vicinity of the SCN1A gene (rs6732655). In a prior study, the SNP in question was initially found to be associated with epilepsy and I discussed the fact that this SNP, albeit not significant by itself, was also seen at a higher frequency in cases than in controls in the epilepsy cohort of the BBJ study. I received some comments regarding this post and it was pointed out that my reasoning was incorrect given that rs6732655 was not nominally significant in the BBJ study. Therefore, this study was not a replication study in itself. Let me retrace my steps and revisit where my hunch came from to write the initial blog post. Continue reading
