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Early-Onset Epileptic Encephalopathies

  • Marina Trivisano
  • Nicola SpecchioEmail author
Chapter

Abstract

Early myoclonic epilepsy (EME) and Ohtahara syndrome (OS) or early infantile epileptic encephalopathy (EIEE) are the earliest epileptic encephalopathy syndromes. These two entities share many features, including age at presentation, a similar electroencephalographic pattern, intractable seizures, and poor prognosis. EME and EIEE are traditionally distinguished according to different type of seizures, differences in the pattern of suppression-burst, and aetiologies. In EIEE onset is within the first 3 months of age and often within the first 2 weeks. Infants acutely develop tonic spasms that can be either generalized or lateralized, can occur both isolated or in clusters, and are independent from the sleep cycle. The most specific EEG feature is the suppression-burst (SB). This pattern is characterized by high-voltage bursts alternating with almost flat suppression phases at an approximately regular rate. SB pattern differs definitely from the periodic type of hypsarrhythmia where it becomes remarkable in sleep. Early myoclonic encephalopathy (EME) can be associated with structural, metabolic, and genetic abnormalities: methylmalonic acidemia, sulphite oxidase deficiency, Menkes disease, and Zellweger syndrome, and CDG disorders.

Other early-onset epileptic encephalopathies due to specific genetic aetiology include CDKL5-related epileptic encephalopathy (OMIM 300672), KCNQ2-related epileptic encephalopathy (OMIM 613720), SCN2A-related epileptic encephalopathy (OMIM 613721), and SCN8A-related epileptic encephalopathy (OMIM 614558).

Keywords

Early-onset epileptic encephalopathy Early myoclonic encephalopathy Burst suppression Ohtahara syndrome 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Rare and Complex Epilepsy Unit, Department of Neuroscience and NeurorehabilitationBambino Gesù Children’s HospitalRomeItaly

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