GABA/glutamate. Even though large-scale Copy Number Variation (CNV) studies in schizophrenia, autism, and intellectual disability were en vogue only a few years ago, it became quiet around these type of studies more recently. Now, a recent study in Neuron revisits CNV analysis in schizophrenia with the largest sample size to date, cancelling out much of the noise that smaller studies had to fight with. Find out how the authors managed to demonstrate a contribution of the GABAergic and glutamatergic system to schizophrenia by sheer numbers. Continue reading
Tag Archives: 22q11.2 microdeletion
Papers of the week – Ohnologs, Microbiota in ASD & Personal Stories
New Year – new papers. The United Nations has declared 2014 the International Year of Family Farming and Crystallography.
But for epilepsy genetics it will be the year of genotyping and sequencing. Hopefully, these studies will translate into with major insights in epilepsy genetics.
Dysregulation of a microRNA in the 22q11.2 microdeletion
Genotype to phenotype. Recurrent microdeletions at various sites in the human genome are known risk factors for a broad range of neurodevelopmental disorders including epilepsy, autism, intellectual disability and schizophrenia. Despite the fact that the pathogenic role is well established, the mechanisms linking the microdeletion to the neurodevelopmental phenotype remain obscure. In contrast to monogenic disorders, various genes are included and functional studies are difficult. Now, a recent paper in Cell examines the role of a specific microRNA that is dysregulated in the 22q11.2 microdeletion. The results are surprising. Continue reading