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Neuroscience
Dravet Syndrome
We see more, treat more and heal more kids than any other hospital in the region.
What is Dravet syndrome?
Dravet syndrome, also known as severe myoclonic epilepsy of infancy, is a rare form of epilepsy that begins in infancy. It’s a serious, lifelong condition that can possibly reduce a child’s quality of life.
Children with Dravet syndrome experience frequent seizures, poor seizure control and developmental delays. Their first seizures are usually longer and occur with a fever. At 2 years old, other seizure types (often without fever) begin to emerge.
What causes Dravet syndrome?
Most of the time, Dravet syndrome comes from a change in a child’s gene. More than 80% of children have a change in the SCN1A gene, which affects how brain cells work. However, not all children with Dravet syndrome have an SCN1A change. Sometimes, the cause is unknown.
SCN1A changes can lead to a variety of disorders, including a type of migraine, generalized epilepsy with febrile seizures plus or Dravet syndrome. Doctors will consider this genetic change and a child’s symptoms when diagnosing Dravet syndrome.
How can my child get genetic testing?
Genetic testing is available in most countries. When a child has a positive genetic test result, providers may also test their parents to see if it might be passed down.
Who gets Dravet syndrome?
Dravet syndrome occurs randomly. Even though it’s a genetic disease, the changes most often affect only the child with the syndrome and aren’t present in other family members.
What are the signs and symptoms of Dravet syndrome?
Signs and symptoms may include:
- Seizures accompanied by fevers in the first year of life
- Seizures of various types beginning after the first 12 months of life
- Episodes of prolonged seizures (known as status epilepticus)
- Seizures that don’t respond to standard medication
- Slowed development in the second year of life
- Myoclonic seizures (brief shock-like jerks of a muscle or group of muscles) around 18 months old
- Seizures associated with vaccinations, hot baths or warm temperatures
- Disruptions of the autonomic nervous system, which regulates body temperature and sweating
What tests are used to diagnose Dravet syndrome?
Your doctor can order a blood test that screens for an SCN1A gene mutation. However, current technology may not detect all changes. Some screening labs also test for changes in SCN2A, GABRG2 and PCDH19 genes that may cause Dravet syndrome and related epilepsies. Some labs provide consultation with a genetic counselor.
Why choose Children's Colorado for Dravet syndrome testing?
Our specialists have expertise in diagnosing and treating children with Dravet syndrome, including our Dravet Syndrome Clinic, which is the only pediatric clinic for this condition in the Rocky Mountain region. We care for the largest group of children with Dravet syndrome in the region. This means our experts provide research findings, clinical trials and the most advanced tests and treatments for children, which aren’t widely available.
What to expect from Dravet syndrome testing
This is a simple blood test that can be drawn in the lab. The results can take up to three months to return.
How do providers at Children's Colorado diagnose Dravet syndrome?
We diagnose Dravet syndrome based on seizure history, a child’s symptoms, neurologic examination, electrical activity in the brain and general observation. Genetic testing of the SCN1A gene can confirm a diagnosis in most cases. However, a mutated SCN1A gene can’t be identified in about 20% of the children who appear to have the syndrome. Therefore, it’s possible that other genes might be involved. Looking at a child’s brain and its electrical activity often helps further confirm diagnosis.
How is Dravet syndrome treated?
Every child with Dravet syndrome experiences it differently so there isn’t a standard treatment. It’s common for kids to have multiple seizure types over time.
Anticonvulsants, or medications that help treat or prevent seizures, can help with repeated seizures caused by Dravet syndrome.
Anticonvulsants frequently used for Dravet syndrome
- Clobazam (ONFI, Frisium, Urbanyl)
- Clonazepam (Klonopin, Rivotril)
- Levetiracetam (Keppra)
- Topiramate (Topamax)
- Valproic acid (Depakote, Depakene, Epilim, Epival)
- Stiripentol (Diacomit)
- Fenfluramine (Fintepla)
- Cannibidiol (Epidiolex)
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