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March 14, 2019

Dravet syndrome – an update 

Dravet syndrome (DS) is a rare early-onset epilepsy syndrome characterized by intractable seizures and poor neurodevelopmental outcomes. Approximately three-quarters of patients with DS carry mutations in the SCN1A gene. These patients typically present with hemiclonic or generalized seizures, often prolonged and triggered by fever, at the age of 5-8 months. Following seizure onset, progressive neurodevelopmental decline ensues. Commonly used antiseizure medications include valproate, clobazam, and stiripentol.Carbamazepine and its analogs, lamotrigine, and phenytoin can exacerbate generalized seizures and should be avoided. Additional therapies include cannabidiol, ketogenic diet, and neurostimulation.^1,2

References

1. Dravet C. Les epilepsies graves de l'enfant. Vie Med 1978;8:543.

2. Wirrell EC, Laux L, Donner E, et al. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations from a North American Consensus Panel. Pediatr Neurol 2017;68:18.

Submitted by Fábio A. Nascimento, MD — Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.

Dr. Nascimento is the author of two pieces on Dravet syndrome for UpToDate, and an editorial board member of Epileptic Disorders.