Do you want to build a snowman? During this weekend, winter storm Jonas descended upon the Eastern United States. Delaware County became covered under about two feet of snow, basically shutting down public life in the Philadelphia and the surrounding suburbs. Being trapped in the house with the kids exhausted from playing outside gave me the opportunity to catch up on my blogging duties and to engage in creative writing. Besides a reference to the 1994 Weezer alternative rock anthem, here is what snow storm Jonas told me about science. Continue reading
Desert Dessert. Cold temperatures, streets closed because of snow – this is not what you expect when traveling to Israel. You also do not expect to have the chance to taste traditional Bedouin food and to see a beautiful canyon every morning. The biggest surprise is that you do not expect this during a workshop. From Dec 12-15th, the European epilepsy genetic community gathered in Be’er Sheva and Sde Boker, Israel for a combined epilepsy genetics workshop and a Young Researcher Meeting. This is a brief attempt to capture the atmosphere of this workshop for everybody who could not attend. By the way, “desert dessert” is a port wine produced in the Negev desert.
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
This time, the desert. After the successful meeting for Young Researchers in Epileptology in Kiel last year, we would like to invite young and senior researchers in the field for the 2013 meeting, which will take place on December 14th, 2013 in Sde Boker, Israel. This year’s meeting is embedded in a small international meeting from Dec 12th-14th on epilepsy genetics with the primary aim of bringing together researchers from Israel and Palestine. As last year, we would like to extend the invitation for this year’s Young Researchers Meeting in Epileptology to all young scientists involved in the field. Don’t forget to bring water and sunscreen; we’re going to the Negev Desert. Continue reading
Where is West Syndrome? Earlier this week while browsing through the contents of Lennox’s book, I wondered where his description of West Syndrome was hidden. Lennox is very careful in reviewing the historical data on epilepsy, but for some reason, he did not mention the report by William James West, who described a particular type of epilepsy in his own son that would later be named after him. Then, when I had almost forgotten that I was on the lookout for West Syndrome, I stumbled upon it in the chapter on myoclonic seizures. Continue reading