Spectrum of genetic early onset epileptic encephalopathies in a tertiary pediatric neurology center in Dubai, UAE

Abstract

Early onset epileptic encephalopathies (EOEE) are severe disorders characterized by several seizure types, frequent epileptiform activity on EEG, and developmental slowing or regression during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy and malignant migrating partial seizures of infancy and other undetermined syndromes. The causes can include structural, neurometabolic and genetic disorders. Genetic diagnoses are increasingly made in these cases with availability of next generation genetic studies, especially Whole Exome Sequencing (WES). Latifa Women and Children Hospital provides tertiary pediatric neurology service to Dubai and the Northern Emirates of UAE, catering to a population of 8 million. We describe a cohort of 40 cases of genetically proven early onset epileptic encephalopathies, including their age of onset, electro-clinical features, imaging findings, response to therapy and outcome. The aim of this presentation is to highlight the spectrum of genetic diagnoses in early onset epileptic encephalopathies and to describe the genetic mutations in a cohort of patients from the Middle East region.