Tailored solutions for developmental epileptic encephalopathy

Antonio Ferrer Montiel

Universidad Miguel Hernández de Elche, Spain

Developmental and epileptic encephalopathy (DEE) is a severe childhood condition that affects brain development and causes seizures. DEE condition is linked to changes in a specific gene that impacts brain cell communication. This project aims to understand these genetic changes better and develop personalized treatments to improve the life of affected children.

Researchers will seek to classify the genetic changes based on how they affect the brain cells and will create models of these changes aiming to evaluate the effectiveness of different treatments in restoring normal brain cell function. This project plans to develop patient-specific models using skin cells transformed into brain cells to test the treatments in a more personalized way.

The collaboration between clinicians, with extensive experience in diagnosing and managing this condition, and researchers specialized in the biology and pharmacology of brain cell communication aims to bridge the gap between clinical and laboratory research, ensuring that findings can be effectively translated into treatments, improving the quality of life for DEE patients together with a better understanding of the genetic changes causing the disease.

• Víctor Soto Insuga, Hospital Niño Jesús, Madrid, Spain

KCNB1-related developmental and epileptic encephalopathy: towards personalized therapies

€797,525.00