Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age

What this Trial Is About

Epilepsy affects over 50 million people worldwide, with nearly 80% living in developing countries. Children under 2 years old have the highest incidence of epilepsy and are at greater risk of severe forms such as West syndrome, Dravet syndrome, and Ohtahara syndrome. These epileptic developmental encephalopathies in young children often have genetic causes and are linked to higher risks of intellectual disability and autism spectrum disorder. In Vietnam, there has been limited research on the genotypes, phenotypes, and progression of these conditions in children under 2 years old. This research aims to study Vietnamese children diagnosed with early-onset developmental epileptic encephalopathy before 2 years of age. The study will investigate the genetic makeup, observable characteristics, and disease progression over a two-year follow-up. Understanding these factors will help improve treatment choices and management, especially since genetic testing can guide interventions like ketogenic diets or medication adjustments specific to genetic mutations. Participants will be closely monitored for genotype and phenotype changes as well as developmental outcomes. The study will collect detailed clinical data and track disease progression over two years. The main outcome measure is the genotype of early-onset developmental epileptic encephalopathy assessed between February 2024 and April 2025. This research will provide valuable insights for early intervention and better prognosis for affected children.

Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age