Issue 3/2015. This week our publications of the week are about the mechanism behind toxicity of the antiepileptic drug valproic acid in patients with POLG mutations, the phenotypic spectrum of the 15q11.2 microdeletion, and a new large-scale study on the genetics of brain size. Continue reading
Tag Archives: POLG1
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