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.
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