Autism researchers discover genetic 'Rosetta Stone'
The genetics of neuropsychiatric disease is often complicated, but here we have a single gene in which specific mutations can cause either infantile seizures or autism in a consistent and predictable manner," said Stephan Sanders, MD, PhD, an assistant professor of psychiatry at UCSF and member of the UCSF Weill Institute for Neurosciences who is co-senior author of the new study. "This gives us an opportunity to understand both what these disorders have in common and what makes them different." The findings are a first step towards understanding how different subtle changes in neural function in utero could lead to the development of either a seizure-prone brain or an autistic brain in infancy, the authors say. The study also further implicates the gene responsible for these changes -- called SCN2A -- as the single human gene with the strongest evidence for a causal role in driving ASDs. Matthew W. State, MD, PhD, the Oberndorf Family Distinguished Professor and c...