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NEUROLOGY 2009;73:e59-e62
© 2009 American Academy of Neurology
Resident and Fellow Section

Child Neurology: Dravet syndrome

When to suspect the diagnosis John J. Millichap, MD, Sookyong Koh, MD, PhD, Linda C. Laux, MD and Douglas R. Nordli, Jr, MD

From the Division of Neurology (J.J.M.) and Epilepsy Center (S.K., L.C.L., D.R.N.), Children’s Memorial Hospital, Northwestern University Medical School, Chicago, IL.

Address correspondence and reprint requests to Dr. John J. Millichap, Division of Neurology, Children’s Memorial Hospital, 2300 Children’s Plaza, Box 51, Chicago, IL 60614 jmillichap{at}childrensmemorial.org

Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. The seizures often occur with fever or illness, and are frequently initially categorized as febrile seizures. The correct diagnosis of DS and appropriate follow-up are typically delayed. The EEG is normal at onset, and neuroimaging reveals no structural lesion. Early development is normal, but signs of regression appear in the second year of life and are often accompanied by convulsive status epilepticus, alternating hemiconvulsions, and myoclonic seizures. Diagnosis can be confirmed by genetic testing that is now available, and shows mutations within the SCN1A gene. Early recognition and diagnosis of DS and management with appropriate anticonvulsants and treatment plan may reduce the seizure burden and improve long-term developmental outcome.

Abbreviations: BME = benign myoclonic epilepsy; DS = Dravet syndrome; ED = epileptiform discharges; FS = febrile seizures; ILAE = International League Against Epilepsy; LGS = Lennox–Gastaut syndrome; MAE = myoclonic-astatic epilepsy; SIMFE = severe infantile multifocal epilepsy; SMEB = borderline severe myoclonic epilepsy; SMEI = severe myoclonic epilepsy in infancy.

Disclosure: Author disclosures are provided at the end of the article.

Received February 13, 2009. Accepted in final form July 10, 2009.