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Journal of Pediatric Epilepsy 2019; 08(02): 031-037
DOI: 10.1055/s-0039-1692171
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Dravet Syndrome: Early Diagnosis and Emerging Therapies

Tyler J. Burr
1   Division of Pediatric Neurology, Department of Neurology, University of Louisville, Louisville, Kentucky, United States
,
Karen L. Skjei 
1   Division of Pediatric Neurology, Department of Neurology, University of Louisville, Louisville, Kentucky, United States
› Author Affiliations
Further Information

Publication History

10 April 2019

24 April 2019

Publication Date:
11 June 2019 (online)

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Abstract

Dravet's syndrome (DS) or severe myoclonic epilepsy of infancy is a rare, genetic, and infantile-onset epileptic encephalopathy. DS presents with recurrent febrile seizures and/or febrile status epilepticus in developmentally normal infants, and subsequently evolves into a drug-resistant mixed-seizure disorder with developmental arrest or regression. As many defining clinical features of DS do not become evident until 3 to 4 years of age, diagnosis is often delayed. Early seizure control, particularly the prevention of status epilepticus in infancy, has been shown to correlate with better long-term outcomes. Thus, early diagnosis and seizure control is crucial. Several treatment algorithms have been published in recent years to guide antiepileptic drug selection and escalation. Last year, two agents, stiripentol and cannabidiol, were approved by the U.S. Food and Drug Administration specifically for use in DS, and a third has been submitted (fenfluramine). Additional therapies, including serotonin modulators lorcaserin and trazodone, verapamil, and several first-in-class medications, are currently in various phases of investigation.

Keywords

Dravet syndrome - cannabidiol - fenfluramine
 

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