Dravet syndrome (DS) is an intractable pediatric
epilepsy syndrome, starting in early childhood. This disorder typically manifests with febrile
status epilepticus, and progresses to a multifocal
epilepsy with febrile and non-
febrile seizures with
encephalopathy. Most cases are due to a mutation in the SCN1A gene. This article reviews treatments for DS, with an emphasis on
pharmacotherapy. While many medications are used in treating the
seizures associated with DS, these patients typically have medically
refractory epilepsy, and polytherapy is often required. First-line agents include
valproate and
clobazam, although there are supportive data for
topiramate,
levetiracetam,
stiripentol and the
ketogenic diet. Other agents such as
fenfluramine are promising
therapies for
Dravet syndrome.
Sodium channel-blocking
anticonvulsants such as
carbamazepine and
lamotrigine are generally contraindicated in this syndrome. Nonpharmacologic
therapies (such as neurostimulation or surgery) are understudied in DS. Because DS is a global
encephalopathy, pharmacologic treatment of non-epileptic manifestations of the disease is often necessary.
Attention-deficit hyperactivity disorder is often encountered in patients with DS, and psychostimulants can be helpful for this indication. Other
psychoactive drugs are less studied in this context. Extrapyramidal and gait disorders are often encountered in DS as well. While DS is a severe epileptic
encephalopathy with a high (up to 15 %) mortality rate in childhood, careful pharmacologic management can improve these patients' clinical picture and quality of life.