Dravet syndrome

Dravet syndrome is a rare, severe form of epilepsy that begins in infancy and is marked by prolonged, treatment-resistant seizures and developmental impairment.

Most cases arise from a mutation in the SCN1A gene, which affects sodium channels in brain cells. The first seizure typically occurs before age one, often triggered by fever, and is followed by varied seizure types, developmental slowing, speech and motor difficulties, and behavioral challenges. Seizures are frequently prolonged and can be provoked by heat, illness or flashing light, and the condition carries an elevated risk of sudden unexpected death in epilepsy.

Diagnosis combines the clinical history, electroencephalography and genetic testing, with care coordinated by a pediatric neurologist. Several antiseizure medications are used in combination, and some common drugs are avoided because they worsen seizures. A prescription purified cannabidiol medicine is approved by the FDA for seizures associated with Dravet syndrome, which is one of the few cannabidiol uses backed by randomized controlled trials.