Three things you didn’t know about epilepsy and genes

Fall colors. Just a brief summary of how this post originated. Eckernförde is a small city north of Kiel and the weekly Sunday destination of my daughter and me because of the wave pool.  This past Sunday, daylight saving and the fact that she didn’t like her dinner had confused the little girl, and we had been awake since 4AM. As a consequence, she fell asleep on the way, and I kept driving to let her sleep. We made it as far as Haddeby, and I used this time to mentally put a post together that I had been planning for some time. These are the three things that are often misunderstood with regards to epilepsy and genes. Continue reading

GOSR2, North Sea myoclonus and the Haithabu variant

Wall Street. Between the 8th and 11th century, Haithabu (Hebedy), a Viking town in Northern Germany close to the border to Denmark was the Manhattan of its time – a flourishing trading town located at a busy shipping route at a natural short passage connecting the Eider and the Treene river, a precursor of the modern-day Kiel canal. The  Vikings used this shortcut to avoid the dangerous Skagerak when heading West on their conquests. When subsequently settling down in many regions of the North Sea coast, they carried their genetic heritage with them, including a rare variant in the GOSR2 gene, which results in a devastating epilepsy when homozygous. A recent paper in Brain now delineates the phenotype of the “North Sea” progressive myoclonus epilepsy. Continue reading