Inducible. Next generation sequencing technologies have the tremendous potential to identify disease-causing genes in a hypothesis-free manner. In a recent publication in the American Journal of Human Genetics, mutations in the gene for the salt-inducible kinase 1 (SIK1) are found in patients with early onset epileptic encephalopathy. In addition to a previously unknown functional network related to intracellular salt in the CNS, the authors demonstrate a peculiar mutational mechanism – activating truncation mutations. Continue reading →