Updates on Pediatric Genetic Epileptic Encephalopathies: A Diagnostic Algorithmic Approach

Epileptic Encephalopathies (EEs) are a heterogeneous group of epilepsy syndromes predominantly seen in neonatal, infantile, and childhood age groups. EEs present with varied signs and symptoms often pose a diagnostic dilemma for the treating physician. The diagnostic complexities imposed by variable age of presentation and overlapping clinical signs and symptoms in EEs are further increased by exhaustive new information from advanced molecular genetic techniques like next generation sequencing. Taking into account all these challenges, the main objective of this chapter is to briefly outline important diagnostic signs and symptoms, EEG, imaging and genetic findings of common neonatal, infantile and childhood-onset genetic epileptic encephalopathies, and secondly, to draw a simple and pragmatic diagnostic algorithm for the diagnosis of genetic epileptic encephalopathies by the treating physicians. Systematic diagnostic algorithms of commonly occurring EEs would not only guide physicians regarding the management of the patients but also help to counsel parents regarding the prognosis, risk of inheritance, and prenatal testing