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