Ohtahara syndrome

Jules C Beal MD (Dr. Beal of Albert Einstein College of Medicine has no relevant financial relationships to disclose.)
Koshi A Cherian MD (Dr. Cherian of Albert Einstein College of Medicine has no relevant financial relationships to disclose.)
Solomon L Moshé MD (Dr. Moshe of Albert Einstein College of Medicine received honorariums from UCB as a member of a data and safety monitoring board.)
Jerome Engel Jr MD PhD, editor. (Dr. Engel of the David Geffen School of Medicine at the University of California, Los Angeles, has no relevant financial relationships to disclose.)
Originally released October 18, 1993; last updated October 30, 2016; expires October 30, 2019

This article includes discussion of Ohtahara syndrome, early infantile epileptic encephalopathy with suppression bursts, early infantile epileptic encephalopathy, and EIEE. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Ohtahara syndrome is 1 of the earliest developing forms of epileptic encephalopathy. The syndrome is characterized by tonic spasms, focal seizures, a specific pattern of suppression bursts in EEG, and poor prognosis. In this article, the authors review the clinical, genetic, neurophysiologic, and etiologic data related to Ohtahara syndrome. The condition is classically thought to be mainly secondary to cerebral malformations. A variety of genetic mutations have increasingly been identified in subjects with Ohtahara syndrome. Metabolic disorders also have been reported as causes of the syndrome.

Key points

 

• Ohtahara syndrome is 1 of the earliest developing forms of epileptic encephalopathy.

 

• The main characteristics of the syndrome are tonic seizures and a suppression-burst pattern on EEG.

 

• Although the condition was classically attributed to structural brain damage, it has increasingly been associated with a variety of genetic mutations as well, most prominently involving the STXBP1, SCN2A, ARX, and KCNQ2 genes, though other associations have been made.

 

• Prognosis is very poor.

Historical note and terminology

Early infantile epileptic encephalopathy with suppression bursts was first described by Ohtahara and colleagues in 1976 (Ohtahara et al 1976) and is considered 1 of the earliest forms of epileptic encephalopathy, the other being early myoclonic epilepsy of infancy. The 1989 revised classification by the International League Against Epilepsy placed the syndrome under "symptomatic generalized epilepsies and syndromes with nonspecific etiology" (Commission on Classification and Terminology of the International League Against Epilepsy 1989).

In 2001, the International League Against Epilepsy Task Force on Classification and Terminology proposed to include Ohtahara syndrome in the list of epileptic encephalopathies (Engel 2001). These are conditions in which not only epileptic activity but also the epileptiform EEG abnormalities themselves are believed to contribute to the progressive disturbance in cerebral function. This group also includes early myoclonic encephalopathy, West syndrome, Dravet syndrome, Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and electrical status epilepticus during sleep.

In 2010, the proposed organization presented by the Classification Commission of the International League Against Epilepsy included Ohtahara syndrome as an electroclinical syndrome, characterized by its clinical and EEG characteristics (Berg et al 2010).

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