From unaffected to Dravet Syndrome – extreme SCN1A phenotypes in a large GEFS+ family

The two faces of SCN1A. Even though the range of phenotypes associated with mutations in SCN1A can be conceptualized as a continuum, there are usually two distinct entities in clinical practice: the severe, epileptic encephalopathy of Dravet Syndrome due to de novo mutations and the usually mild fever-related epilepsies in autosomal dominant GEFS+ families. While Dravet Syndrome can also be seen in some families with Genetic Epilepsy with Febrile Seizures Plus (GEFS+), this is a rare phenomenon; there is usually little overlap between Dravet Syndrome and GEFS+. Within the Israel Epilepsy Family Project, we came across such a family with overlapping phenotypes. This recently published large GEFS+ family probably has the widest phenotypic range reported to date. Continue reading

21st century digital boy: The Kiel Young Investigators’ Meeting

The children of the genomic revolution. There aren’t many possibilities for young researchers in epilepsy research to get together independently. Accordingly, we were in the fortunate position to host the first meeting for young researchers in pediatric epileptology in Kiel last week. I was asked by some participants to write a post on this. There were, however, two very specific instructions. First, I was asked to write about “Generations X and Y” and the resulting conflicts in science. Secondly, I was told not to write an ordinary meeting report, but something different… Continue reading