New research from the University of Colorado Anschutz Medical Campus is the first to identify defects related to metabolism (how the body processes and uses energy) in lymphoblast cell lines (LCLs) derived from blood samples of children with Dravet syndrome.
"By using the LCLs, we're able to look at patients with a variety of mutations in a non-invasive way. This gets us closer to a full picture of what's happening in their bodies and phenotype that may be causing their seizures and severe symptoms," said co-author Kelly Knupp, MD, an associate professor of pediatrics and neurology at the University of Colorado School of Medicine and a pediatric epileptologist at Children's Hospital Colorado.