Precision Therapeutics for Monogenic Epilepsies: From Molecular Mechanisms to Disease Modification in Developmental and Epileptic Encephalopathies and Neurodevelopmental Disorders with Epilepsy

Background

Developmental and epileptic encephalopathies (DEEs) and neurodevelopmental disorders with epilepsy (NDD-E) are etiologically heterogeneous conditions historically treated with syndrome-based, symptomatic approaches. Advances in genomic sequencing have identified monogenic causes across more than 900 genes, creating opportunities for mechanism-informed and disease-modifying precision therapies.