Publications of the week – 15q13.3 deletions, POLG1 and liver failure, and twins

Update. In the last few weeks, we have tried to catch up with some recent publications in the field that mainly focused on autism spectrum disorder. This week’s publications, in contrast, cover a wide range of topics including the phenotypic spectrum of the 15q13.3 microdeletions, the importance of POLG1 in valproate-induced liver failure, and the most recent updates on epilepsy and twins. Continue reading

Traveling with Lennox – the petit mal triad

Lights on and lights out. Staring spells, petits mals, pyknolepsy and absence seizures. The brief spells that occur in patients with epilepsy have riddled neurologists for centuries. This became clear to me when Zaid Afawi and myself saw an epilepsy family in the West Bank on Sunday. When are staring spells epileptic and what kind of seizures are they? For me, this was a good opportunity to read Lennox’s thoughts on this. Eventually, after a long day under the Middle Eastern sun, I fell asleep over the chapter on absence status. Continue reading

Genetic Generalized Epilepsy might be less genetic than you think

Ceci n’est pas une pipe. The painter René Magritte was known for his series of paintings that he called The Treachery of Images. He basically painted objects such as pipes, but then felt compelled to point out that the image actually betrays you. It’s not a real pipe, but only an image of it. For some reason, Magritte’s pipe comes to my mind when I read or hear the term Genetic Generalized Epilepsy. Again, the treachery of images. Ceci n’est pas une épilepsie génétique. Continue reading