Dravet Syndrome (DS)

Dravet syndrome (DS) is a rare form of severe epilepsy that typically manifests within a patient’s first year of life and is a lifelong condition. Seizures, which are often prolonged, are triggered by fevers, other heat that increases body temperature, or flashing lights and patterns. These seizures are predominantly resistant to treatment with antiseizure medications (ASMs).¹ 

Because the seizures are prolonged and difficult to manage with medications, they lead to progressive cognitive impairment, behavioral changes, and developmental delay, all of which are generally noticeable after the age of 2 years.¹

Genetics of DS

Approximately 80% of people with DS have mutations in the SCN1A gene. This causes abnormal functioning of sodium ion channels, resulting in hyperactive nerve firing in the brain and recurrent seizures.¹ 

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The mutations are most often de novo, and therefore, acquired after conception; however, in a small percentage of patients, SCN1A mutations are inherited from 1 parent.¹

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Recommended Pharmaceutical Therapies for DS

According to guidelines set by the International Consensus Panel Study in 2021, the recommended first-line treatment for patients with DS is Depakote® (valproate). Onfi® (clobazam) is also considered a strong first-line or second-line approach. Other first- or second-line options may include Diacomit® (stiripentol), Fintepla® (fenfluramine), and Epidiolex® (cannabidiol).^2,3

Caregivers of patients with DS should have rescue medications available at all times; these are usually benzodiazepines, including Valium® (diazepam), Klonopin® (clonazepam), Ativan® (lorazepam), and Versed® (midazolam). Rescue medications can either be administered rectally or injected during a seizure lasting longer than 5 minutes (status epilepticus).⁴ For status epilepticus that persists despite benzodiazepine therapy, guidelines recommend intravenous Depakote or Keppra® (levetiracetam). Intravenous Cerebyx® (fosphenytoin) or Dilantin® (phenytoin) can be used if the seizure is still refractory to initial treatments.³

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Medications to Avoid Using in DS

Because dysfunctional sodium channels in the brain are the main cause of seizures in DS, patients should avoid taking sodium channel blockers, which can worsen seizure activity. These include Lamictal® (lamotrigine), Dilantin, Cerebyx, Tegretol® (carbamazepine), Banzel® (rufinamide), and Trileptal® (oxcarbazepine).^1-4 Additionally, Sabril® (vigabatrin) and Gabitril® (tiagabine) may aggravate seizure activity in people with DS.^1,4

Dietary Therapy for DS

According to the 2021 guidelines, the ketogenic diet should be strongly considered as treatment for individuals with DS after the failure of 3 to 4 ASM therapies. The ketogenic diet is high in fat and low in carbohydrates. Seizure activity has been reduced in more than 60% of patients with DS while they follow the ketogenic diet.^3,4

In infants and children younger than age 6, the classical ketogenic diet is recommended. The classical ketogenic diet or modified Atkins diet are the recommended options for school-aged children. The modified Atkins diet is recommended for all patients from adolescence through adulthood.³

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Safety and Dravet Syndrome

Mortality rates are higher in patients with an epilepsy syndrome such as DS than in the general population. Seizures can be life-threatening for several reasons, some of which can be prevented if precautions are taken.⁵

Safety Precautions for Individuals with DS

Children and adults with DS must always be supervised because cognitive impairment may prevent awareness of dangerous situations. They may also wander away from home or school, placing themselves in potential danger.⁵

Safety precautions for caregivers of individuals with DS may include⁵:

• Providing extra supervision around water (swimming and bathing);
• Preparing copies of a detailed emergency protocol (Seizure Action Plan)¹ to be followed if a seizure occurs and distributing them to people who associate regularly with a person who has DS;
• Equipping a child or adult who has DS with a medical identification bracelet, shoe tag, necklace, or wearable QR code that provides all relevant information; 
• Asking or requiring a person with DS to wear or carry a GPS-enabled tracking device, such as a watch or phone;
• Alerting neighbors and the local police and fire department about the special needs of an individual with DS; and
• Creating a special needs information profile for the person with DS, which should include a current photo, identification, medical information, a current medication list, emergency contact information, instructions on calming methods, and potential nearby hazards (pools, bodies of water, train tracks) that may be a threat to the patient’s safety.

Seizure Safety for Individuals With DS

Other life-threatening complications of DS include sudden unexpected death in epilepsy (SUDEP) and status epilepticus. Status epilepticus is defined as a seizure lasting longer than 5 minutes or as several seizures occurring one after another during a period of 5 minutes or longer without adequate time for recovery.⁶ 

Patients who have seizures that are difficult to control with medications are at increased risk for SUDEP. Ways to prevent SUDEP include providing consistent and correct doses of seizure medication, identifying the most effective ways to control seizures with the fewest side effects, using a seizure alert monitor at night, and understanding and avoiding known seizure triggers.⁴ Make sure that rescue medications are always on hand so that attempts can be made to stop episodes of status epilepticus.⁴

Read more about DS clinical features

Rehabilitative Therapies and Plan for School

Ongoing physical, occupational, and speech therapy may benefit people with DS. Before starting school, children with DS should undergo a neurodevelopmental assessment to determine which therapies may be most beneficial and to develop an Individualized Education Plan (IEP) based on their specific needs.^1,7

It is essential to provide the school staff with a Seizure Action Plan that includes detailed instructions on the steps to be taken in the event a seizure develops while a child with DS is at school. Collaboration between parents, school staff, and health care providers is necessary to ensure the child’s safety.^1,7

Read more about DS treatment

References

1. Dravet syndrome. Epilepsy Foundation. Accessed March 23, 2023.
2. Dravet syndrome. Children’s Hospital of Philadelphia. Accessed March 23, 2023.
3. Wirrell EC, Hood V, Knupp KG, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia. 2022;63(7):1761-1777. doi:10.1111/epi.17274
4. Dravet syndrome. UCSF Benioff Children’s Hospitals. Accessed March 23, 2023.
5. Safety and Dravet syndrome. Dravet Syndrome Foundation. Accessed March 23, 2023.
6. Status epilepticus. Johns Hopkins Medicine. Accessed March 23, 2023.
7. Be sure your child’s school team is seizure ready! Dravet Syndrome Foundation. Accessed March 23, 2023.

Reviewed by Hasan Avcu, MD, on 3/27/2023.

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Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.