The spectrum of developmental and epileptic encephalopathies and their genetic heterogeneity are much broader than previously thought.

Puntos clave

• Developmental and epileptic encephalopathies show greater genetic diversity than previously identified, affecting diagnosis and treatment.
• Heterogeneity in genetic backgrounds underscores the complexity of these conditions, complicating clinical assessments.
• Analysis of various genetic pathways highlights the need for updated classification systems to accommodate emerging findings.
• Genetic insights may lead to tailored therapeutic approaches, emphasizing the importance of comprehensive genetic testing.

Resumen