Beyond recessive – KCNC1 mutations in progressive myoclonus epilepsy

PME. The progressive myoclonus epilepsies (PME) are a particular subtype of seizure disorders characterized by progressive myoclonus, generalized seizures and cognitive deterioration. Known causes of PME include recessive mutations in several well-known genes, but the genetic cause is unknown in a significant proportion of patients. Now, in a recent paper in Nature Genetics, de novo mutations in KCNC1 are identified as a novel cause of progressive myoclonus epilepsies. In addition to elucidating the genetic basis in a significant subset of patients with PME, the authors demonstrate that de novo mutations play an important role in a group of diseases usually thought to be recessive. Continue reading

Publications of the week – PRICKLE1, Phelan-McDermid syndrome, and mitochondrial genetics

The week in review. It’s currently a bit quiet in the literature with respect to novel gene findings. However, there is plenty to explore about genes and variants we already know and their role in human epilepsy. This week’s selection of publications is about functional studies in a gene for progressive myoclonus epilepsy, the EEG signature in a microdeletion syndrome, and contribution of mitochondrial genetics in intractable epilepsy. Continue reading

Publications of the week: genetics of Infantile Spasms, CERS1, DYRK1A, and hyaluronan

This week in epilepsy genetics. The following publications might be relevant for you, as they demonstrate what happened in the field of epilepsy genetics in the last two weeks. The publications range from basic science studies in extracellular space to novel gene discoveries. I have added a brief comment to each of these studies. Continue reading