Publications of the week – Dravet Syndrome, TBC1D24, and CSTB

Issue 6/2015. Publications from the most recent issue of Epilepsia are very prominent in this week’s selection of publications. We discuss the frequency of Dravet Syndrome, a novel family with a TBC1D24 mutation, and the role of Cystatin B (CSTB) in Juvenile Myoclonic Epilepsy. Continue reading

USP9X, Ubiquitin, and the PRICKLE interactome

PRICKLE. There are some genes implicated in human epilepsies that we have a hard time making sense of. PRICKLE1, implicated in a recessive progressive myoclonus epilepsy, is one of these genes. In a recent publication in PLoS Genetics, the interactome of the enigmatic PRICKLE proteins is explored. The authors rediscover an almost forgotten gene implicated in intellectual disability. Continue reading

Publications of the week – SRP9, Nebulin, and Kuf’s disease

Issue 2/2015. For the second issue of our publications of the week in 2015, we have selected recent publications on the genetics of Febrile Seizures, the complexities of interpreting variants in large genes and functional studies on progressive myoclonus epilepsies due to mutations in SCARB2 and CTSF. Continue reading

These are the top 10 epilepsy genes of 2014

Top 10. 2014 has been a very productive year in epilepsy gene discovery and with our final blog post this year, we wanted to provide a brief overview of what has been pertinent this year. From the multitude of novel genes identified this year, here are the 10 most relevant findings – including some genes that you probably didn’t expect. 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