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.

Dravet syndrome is a severe form of epilepsy, usually diagnosed in infancy, that is associated with developmental delays and severe seizures. It has long been recognized for its neurological symptoms but its underlying metabolic issues, especially at the cellular level (specifically mitochondrial function), have not been extensively explored until this study.

The findings from this study were published today in Epilepsia.

“It’s been proven that some children with Dravet syndrome respond to ketogenic diets, which suggests that energy metabolism is somehow involved in the condition. Our goal was to explore this connection further to gain a deeper understanding of its role in managing the syndrome,” said the paper’s senior author Manisha Patel, PhD, Associate Dean for Research at the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences.

The pilot study looked at the blood-derived immune cells of eight children with Davet syndrome with known mutations in their sodium channels to create LCLs. They then compared them to age- and sex-matched control LCLs to explore whether the cells from children with the condition exhibit different energy metabolism characteristics.

A study conducted at Tampere University shows that a blow to the head can significantly impact a child’s or adolescent’s future education and, consequently, their career. Even a mild concussion can have far-reaching consequences.