Abstract
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 nextgeneration 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
Keywords: Algorithm, Diagnostic, Dravet, Drug-resistant, Epileptic, Encephalopathies, Febrile, Genetics, Infantile, Landau-Kleffner, Lennox-Gastaut, Molecular, Myoclonic, Neonatal, Ohtahara, Pediatric, Semiology, Syndrome, Treatment, West-syndrome.
