Pediatric epilepsy affects nearly 470,000 children in the United States, making it the most common childhood brain disorder. There are many types of epilepsy, including Dravet syndrome, a rare and severe form of the condition, caused by a specific genetic mutation that typically begins in the first year of life. It affects 1 in 15,700 children and significantly impacts quality of life.

“Dravet syndrome is the most common genetic epilepsy disorder we see in children that requires specialized care and attention,” said Deborah Holder, MD, program director of Pediatric Epilepsy at Guerin Children’s. “Awareness is critical so families and healthcare providers can recognize the early signs and seek the right interventions.”

With November marking Epilepsy Awareness Month, the Cedars-Sinai Newsroom recently spoke with Holder to learn more about Dravet syndrome, early signs of seizures to watch for, how genetics play a role and why increased awareness and early detection can be life-changing.

What is Dravet Syndrome?

Dravet syndrome is a type of epilepsy that presents in childhood. It's predominantly caused by a mutation in a gene, specifically a sodium channel gene called SCN1A, which is one of the genes that impact how the brain works. It usually starts with seizures in childhood. Most children have their first seizure, usually between one year and 18 months, although it can start as young as six months.

What are the Symptoms of Dravet Syndrome?

Patients with Dravet syndrome typically present with seizures triggered by high fevers, which can be caused by illness, infection or fever occasionally following vaccination. Early seizures are often hemiclonic, meaning they involve rhythmic motor activity on one side of the body. A seizure may occur on the left side of the body the first time and then on the right side of the body the next time. 

A doctor will see a patient come in with these very long, often prolonged seizures, which we call status epilepticus. Such seizures require significant intervention with lots of medications and hospital care.

Children with Dravet syndrome face multiple challenges, including developmental difficulties that may lead to behavioral disorders, delayed language and speech issues, nutrition and sleeping difficulties and abnormalities in gait and walking. Additionally, the condition can affect other parts of the body, such as the heart.

How is Dravet Syndrome Diagnosed?

Because Dravet syndrome is one of the most common genetic epilepsy disorders in children, it’s important to perform genetic testing early. Identifying the underlying mutation allows us to make an accurate diagnosis. Evaluating the child’s seizure patterns and seizure type also helps us gather the information needed to choose the right medications to bring seizures under control.

The challenge with Dravet syndrome lies in the way it affects a child’s genetics. Although patients may appear to have long focal seizures, the medications typically used for focal seizures can actually make their condition worse. This is why it’s really important that we make the genetic diagnosis so we can treat the gene mutation, instead of the seizure type. It’s also important to note that

Is Dravet Syndrome an Inherited Disorder?

Dravet syndrome is not usually inherited from the parents. Many people hear “genetic disorder” and assume it occurs when the gene is passed down from the mother or father, but most genetic epilepsies are what we call “de novo,” meaning the mutation occurs for the first time in the child and is not connected to family history. Even if the parents are completely healthy, a child can be diagnosed with Dravet syndrome. In other words, any baby could potentially be at risk.

How is Genetic Testing Performed for Dravet Syndrome?

Genetic testing now is very easy. We just do a cheek swab. We don't even have to do a blood test. For pediatric patients, we typically do what's called whole exome sequencing, which really sequences all of the genomes we're familiar with today. Instead of doing a panel where we look at the most common genes that cause epilepsy, we really sequence everything. This way, we don't miss any of the genes that we are currently aware of, including SCN1A, the gene that causes Dravet syndrome.

How Do You Treat Dravet Syndrome?

Several anti-seizure medications are specifically approved for Dravet syndrome, including cannabidiol (CBD), which has been formally studied and found effective to manage the condition. However, medications don’t work for everyone, so other approaches can help.

Diet therapy, such as the ketogenic diet—a high-fat, low-carb diet that puts the brain into ketosis—can be very effective. We typically combine medication and diet therapy for the best results.

Additionally, there are several devices and rescue therapies available to help stop prolonged seizures and reduce hospital stays for children with Dravet syndrome. The vagus nerve stimulator is a device commonly used for Dravet syndrome. We place a wire along the vagus nerve, which is a nerve that runs along the neck. The device is designed to continuously monitor the heart rate and, when it detects a rise in heart rate and seizure activity, it sends signals to the brain to both prevent and stop seizures in its tracks.

Currently, there are also a few clinical trials exploring gene-modifying therapies. These approaches aim to directly target the underlying genetic cause, potentially controlling Dravet syndrome more effectively and improving the quality of life for children.

Read more on the Cedars-Sinai Blog: Personalized Epilepsy Treatment for Each Child

Epilepsy is a brain disorder that causes repeated seizures. Because the condition’s symptoms can be subtle, it is often disregarded or misdiagnosed.

Holder told L.A. Parent that a convulsive seizure, during which a person loses consciousness and falls down while the whole body convulses, is the rarest type of seizure. 

“Every day in the clinic, I see children who have had for years what many people call ‘funny spells,’” Holder told L.A. Parent. “A child may have an uncontrollable motor activity, such as twitching of an arm or one leg, or twitching of one side of the face that lasts for 30 seconds. If a child has the same feeling or sensation or behavior that happens over and over again, that is a sign the child might be having seizures.”

Holder said that epilepsy can often be diagnosed by talking to the family or seeing a video recording of the child having a “funny spell.”

“We are very good at being able to tell by looking at the recording if the event is a seizure or not,” Holder told L.A. Parent.

Treatment for epilepsy in children can range from medication and special diets to targeting the affected area of the brain with a laser, for seizures that are harder to control. Holder noted that many children outgrow seizures as their brains grow and develop.

Click here to read the complete article from L.A. Parent.

“Every day in clinic I see children who have had for years what many people call ‘funny spells,’” Holder said. “Sometimes I start talking to a parent and find out the parent has had ‘funny spells’ for years, but had no idea they were epileptic seizures.”

That’s because many people with epilepsy experience subtle symptoms, such as not being able to talk for a few seconds, Holder said. When the momentary symptoms disappear, people tend to forget to look for the source.

“Sometimes children experiencing seizures will see flashing lights or have temporary blurred vision, which leads them being misdiagnosed with migraine,” Holder said.

About 1 in 26 Americans are thought to have epilepsy, a neurologic condition in which a person experiences seizures, or episodes of abnormal electrical activity in the brain.

To mark National Epilepsy Awareness Month, Holder spoke with the Cedars-Sinai Newsroom about what seizures can look like—and why it is important that children get help as soon as possible.

What does a seizure look like?

A seizure can look like anything, depending on where in the brain the seizure comes from. A lot of people think a seizure is a convulsive seizure, where there's a loss of consciousness and the person falls down to the ground and the whole body experiences convulsive activity. That's actually the rarest type of seizure.

The most common seizures are barely noticeable. Sometimes a patient will just sit and stare and be unresponsive for three or four seconds. A child may have an uncontrollable motor activity, such as twitching of an arm or one leg or twitching of one side of the face that lasts for 30 seconds.

Patients may get a feeling of numbness or tingling in a part of the body, or get a funny smell or taste in the mouth that comes and goes. Sometimes they're not able to process language, and their speech is garbled.

If a child has the same feeling or sensation or behavior that happens over and over again, that is a sign the child might be having seizures.

How do you diagnose epilepsy in children?

We rely a lot on information we gather by talking to families. Often, we can make the diagnosis without any diagnostic test, although we still do an EEG, an electroencephalogram, to see if we can gather any further information. For this test, we place electrodes that look like little stickers on the head so that we can monitor brain waves.

How have smartphones changed how pediatric epilepsy is diagnosed?

I've been doing this for more than 20 years, and one of the things that has been most helpful to me is the advent of cell phones with video recording. I advise families, if you see a child having a funny spell, get it on a video camera. We are very good at being able to tell by looking at the recording if the event is a seizure or not.

What happens if a child is not diagnosed promptly?

Children are learning to read, write, think. Undiagnosed seizures can interfere with a child’s ability to learn and process information.

How do you treat epilepsy?

Most children are able to be seizure-free on medications alone. As the brain grows and develops, many children will outgrow seizures and not need to take medication long term.

More than a third of patients have seizures that are more difficult to control. For those children, we typically do advanced diagnostic testing to see exactly where the seizures are coming from. We then remove the part of the brain causing the seizures. Nowadays, this can be done by making a very small opening in the brain and treating the affected area with a laser. The opening is closed with just one suture and the patient usually goes home the next day.

Is epilepsy genetic?

Scientists have identified more than 500 genes that are associated with epilepsy. When we do genetic testing, we can tell not only what causes the epilepsy, but also which medications to use. We do genetic testing by swabbing the cheek. It takes five minutes.

We have a very strong genetics program at Guerin Children’s. The really exciting news is that we have, for the first time, a gene therapy in trials in patients with epilepsy. We may one day be able to treat children with this therapy.

Read more on the Cedars-Sinai Blog: Myths and Facts About Epilepsy