Journal of Clinical Medicine
Precision Therapeutics for Monogenic Epilepsies: From Molecular Mechanisms to Disease Modification in Developmental and Epileptic Encephalopathies and Neurodevelopmental Disorders with Epilepsy
By Michael Scott Perry.
Abstract
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.



