Building awareness for draVET SYNDROME

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Dravet syndrome is a rare, lifelong genetic epilepsy disorder that begins in infancy. It is considered a developmental and epileptic encephalopathy (DEE), meaning that seizures and underlying brain dysfunction both contribute to developmental challenges over time.

Most cases are caused by a mutation in the SCN1A gene, which affects how the brain’s electrical signals function.

• Usually begins at 2–15 months of age.
   
• First seizures often start during fever-related events (febrile seizures).
   

Children and adults with Dravet syndrome experience multiple seizure types, including:

• Prolonged febrile seizures (lasting more than 5 minutes)
   
• Generalized tonic-clonic seizures
   
• Myoclonic seizures (brief, shock-like muscle jerks)
   
• Atypical absence seizures
   
• Focal seizures
   
• Status epilepticus (seizures that don’t stop without medical help)
   

Seizures are often difficult to control with standard anti-seizure medications.

• Over 80–90% of cases involve a mutation in the SCN1A gene, which helps produce a protein that regulates sodium channels in brain cells.
   
• Most mutations are de novo, meaning they occur spontaneously (not inherited).
   

The mutation disrupts electrical signaling in the brain, making neurons more likely to fire abnormally, which leads to seizures.

• Slowed cognitive development after the first year of life
   
• Delays in speech and language
   
• Learning challenges
   

• Ataxia (impaired balance)
   
• Low muscle tone
   
• Problems with fine and gross motor skills
   

• Hyperactivity
   
• Impulsivity
   
• Autism spectrum-like traits
   
• Sleep disturbances
   

• Trouble regulating body temperature
   
• Increased risk of infections
   
• Feeding or gastrointestinal issues
   
• Risk of SUDEP (Sudden Unexpected Death in Epilepsy)

Common seizure triggers include:

• Fever or illness
   
• Hot temperatures or warm baths
   
• Flashing lights (in some individuals)
   
• Overexertion
   
• Stress or excitement
   
• Vaccination-related fever (not the vaccines themselves)

A neurologist looks at:

• Seizure history
   
• Age of onset
   
• Types and frequency of seizures
   

• Testing for SCN1A mutations helps confirm diagnosis.
   

• EEG: Often normal early on but may show epileptiform activity later
   
• MRI: Usually normal
   

There is no cure, but symptoms can be managed.

Medications commonly used:

• Valproate
   
• Clobazam
   
• Stiripentol
   
• Topiramate
   
• Fenfluramine (FDA-approved for Dravet syndrome)
   
• Cannabidiol (CBD) (Epidiolex)
   

Some medications worsen seizures in Dravet syndrome, such as:

• Carbamazepine
   
• Lamotrigine
   
• Phenytoin
   
• Oxcarbazepine
   

These are sodium-channel blockers and are generally avoided.

• Physical therapy
   
• Occupational therapy
   
• Speech therapy
   
• Behavioral support
   

• Vagus nerve stimulation (VNS)
   

• Rescue medications for prolonged seizures
   
• Temperature management
   
• Safe environments to reduce injury risk

 Dravet syndrome is a lifelong condition, but outcomes vary. Many individuals:

• Continue to have seizures into adulthood
   
• Have developmental and learning challenges
   
• Need long-term, supportive care
   

However, improved treatments and awareness have significantly improved quality of life in recent years.