• Dravet syndrome is a rare genetic dysfunction of the brain.

• It begins in the first year of life in an otherwise healthy infant and is lifelong.

• Most children develop some developmental disability.

• Treatment involves finding the best combination of medicines to treat seizures and prevent seizure emergencies. Dietary therapy and vagus nerve stimulation can also be helpful.

• Epidiolex (cannabidiol, CBD) oral solution, approved by the FDA in June 2018, was the first medicine approved specifically for Dravet Syndrome.

• A multidisciplinary team and early developmental assessment are needed to address the ways Dravet syndrome can affect a child and their family.

Dravet syndrome is a rare genetic epileptic encephalopathy (dysfunction of the brain). It begins in the first year of life in an otherwise healthy infant. Before 1989, this syndrome was known as epilepsy with polymorphic seizures, polymorphic epilepsy in infancy (PMEI), or severe myoclonic epilepsy in infancy (SMEI). The disease begins in infancy but is lifelong.

Some more important points:

• Infants have normal development at the time the seizures begin. Yet as seizures continue, most children develop some level of developmental disability and other conditions associated with the syndrome.

• It is commonly misdiagnosed. MRI (magnetic resonance imaging) and EEG (electroencephalogram)tests are also normal in infants at first.

• About 8 out of 10 people with this syndrome have a gene mutation that causes problems in the way that ion channels in the brain work. This mutation is most often not inherited from the parents but is considered a de novo or “new” mutation in the child. The seizures are refractory or do not respond to seizure medications well in most cases. (Source: Epilepsy Foundation)

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