Authors: Spoorthi Jagadish, MD, MBBS; Sreenath Thati Ganganna, MD, MBBS Reviewed: August 2021 Dravet syndrome is a severe and rare form of epilepsy. It typically starts in the first year of life. It manifests with seizures that are: Dravet syndrome is also associated with mild, moderate, or severe developmental delay. Dravet syndrome was first described by Charlotte Dravet in 1978. She called it a severe myoclonic epilepsy of infancy. In 2001, a genetic basis for this disease was discovered. Most cases are due to mutation in the SCN1A gene. This gene provides instructions for making sodium channels. These channels transport sodium ions into nerve cells in the brain. They play a key role in nervous system function. The disease is lifelong. It affects 1 in every 15,700 to 40,000 live births. Males and females seem to be affected equally. Dravet syndrome is a severe genetic epilepsy syndrome. It appears in infancy. Seizures caused by this disease are difficult to treat. Antiseizure medications often do not work. Children with Dravet syndrome have normal development initially. However, due to the sodium channel abnormality and how it affects the brain, as well as the difficulty in controlling seizures, most children will experience developmental delay or regression. Even if the seizures are fairly well controlled, children with Dravet syndrome still have a steady neuro-cognitive decline. SCN1A gene mutations result in a spectrum of epilepsy conditions. Dravet syndrome is the most severe version. Some types of SCN1A gene mutations cause more severe symptoms than others. Some cause seizures at an earlier age than others. Not every individual with an SCN1A gene mutation will have Dravet syndrome. The mildest form of mutation causes a condition called genetic epilepsy with febrile seizures plus (GEFS+). Febrile seizures are seizures triggered by a fever. In GEFS+: Patients with Dravet syndrome have an increased risk of death. 15 to 20 out of 100 patients with Dravet syndrome may die by adulthood. The two most common causes of death are: SUDEP in Dravet syndrome occurs mainly in childhood but can occur at any age in all patients with intractable or “difficult to control” seizures. Death can also be caused by: Typically, seizures begin in the first year of life, between 5 and 8 months of age. The infant is usually otherwise healthy and with normal development. Seizures in the first year of life are usually: Other types of seizures begin to appear between ages 1 and 4. These seizures may be due to fever or illness or may not have any obvious triggers. The seizures without obvious triggers are called unprovoked seizures. The seizures at this age occur frequently and are challenging to treat. They may also last a long time, over 5 minutes. As seizures continue, children between the ages 2 to 5 years may begin experiencing: Children with Dravet syndrome may have different seizure types at different times. Types include: Whole–body convulsions. Single-side convulsions. More common in infants with the disease. Sudden brief jerking of arms or legs. More common after one year old. Sudden loss of body tone with resultant falling. More common after one year old. Unresponsive staring episodes. More common after one year of age. Seizures tend to become less frequent and less severe in adolescence and adulthood. Typically, older patients with Dravet syndrome may have less frequent and briefer seizures. They will also have intellectual disabilities, difficulty walking due to a stooped, wide based gait, and poor balance. About 80% patients with Dravet syndrome have a mutation in their SCN1A gene. This gene provides instructions for making part of a sodium channel found mainly in the brain cells. The channel is involved in transmitting signals from one nerve cell to another. SCN1A gene mutation is the most common cause for Dravet syndrome. Some other genetic mutations have also been known to cause Dravet syndrome, including CHD2, GABRA1, GABARG2, STXBP1, SCN1B, SCN2A and PCDH19. About 90% to 95% of patients with Dravet syndrome have de novo genetic mutations. De novo mutations are spontaneous. They occur in the egg, sperm, or fertilized egg. In a few cases, both a patient and their family members will have an SCN1A gene mutation. However, family members with this mutation tend to have no or only mild symptoms. Sometimes, no known genetic mutation is found. In these cases, Dravet syndrome can still be diagnosed via its symptoms. Brain MRI, or magnetic resonance imaging, is often used when any kind of seizures begin. However, it is not used to diagnose Dravet syndrome. Over time, MRI may show mild scarring or shrinking of the brain in those with this disease. An EEG, or electroencephalogram, records electrical activity of the brain. It is routinely used in patients with epilepsy. In Dravet syndrome, an EEG is usually normal during the first year of life. Over time, the EEG will show abnormal changes, such as intermittent electrical bursts, frequently called epileptogenic discharges. An EEG may be repeated over time. This way, it can: Most patients with Dravet syndrome have a blood test to look for genetic mutations. An SCN1A gene mutation can help confirm a diagnosis of Dravet syndrome. However, this alone is not sufficient for diagnosis. A person can have this disease without an SCN1A mutation. Further, not all SCN1A mutations lead to the disease. Therefore, experts only recommend testing an infant with two or more seizures that: Adults experience fewer seizures than children in Dravet syndrome. However, lifelong treatment is still required. Antiseizure medicines can be used to stop seizures that last longer than 5 minutes. Antiseizure medicines that immediately abort seizures belong to a group of drugs called benzodiazepines. They may include: These can be administered in the nose, cheek, or rectum at home. They can also be injected in muscles or veins in a hospital setting. Long-term treatment options include antiseizure medicines and a ketogenic diet. Antiseizure Medicines These medicines are used to prevent seizures from occurring. They include: Commonly used first line drugs. These have been found useful in treating Dravet syndrome. Derived from the cannabis plant (marijuana). Entirely different from marijuana you would find for sale in a dispensary or online. By prescription only. Recently FDA approved for children with Dravet syndrome older than age 2. Previously used as an appetite suppressant. Recently FDA approved for children with Dravet syndrome older than age 2. Note: Some antiseizure medications need to be avoided in Dravet syndrome. They can worsen seizures. These medications include phenytoin, lamotrigine, carbamazepine, and oxcarbazepine. Each antiseizure medication is associated with certain side effects. Side effects can range from mild to severe. A child’s neurologist can discuss specific side effects. However, examples include: Antiseizure medications may interact with each other in the blood stream. This can cause changes to how effective they are. Drug levels may need to be checked from time to time. This is especially true if response to treatment is poor. Ketogenic Diet Special diets can help control seizures: These diets are high-fat and low-carbohydrate. They have been proven effective in controlling seizures in children with Dravet syndrome in many studies. Strict adherence to the diet is necessary to get good results. These diets should be undertaken only in association with an epilepsy center or physician familiar with the diet. The ketogenic diet requires carefully monitoring a child’s growth. Some important side effects of the ketogenic diet include: Surgical options can help in the long- or short-term. They include vagus nerve stimulation (VNS) and deep brain stimulation (DBS). Deep brain stimulation is not yet FDA approved in children. DBS is only approved for focal seizures in adults over 18 years of age. VNS and DBS therapy are invasive procedures. They require surgery. For more in-depth information please see the medical article, Is Epilepsy Surgery an Option in Dravet Syndrome?. Vagus Nerve Stimulation In VNS, a generator is implanted under the skin of the upper chest. Wires are attached to a nerve in the neck called the vagus nerve. Electrical stimulation is delivered via the vagus nerve to various regions of the brain. This can reduce seizure occurrence. Further, a special magnet that can be swiped over the VNS generator during a seizure. This can stop a seizure. It might also reduce the intensity of a seizure. The newer generation VNS devices are programmable. They can detect the sudden jump in heart rate associated with a seizure. They can then send extra electrical impulses to the vagus nerve. This tells the brain to stop the electrical activity causing the seizure. Side effects of VNS mainly include: You can read more about Vagus Nerve Stimulation from The Brain Recovery Project. Deep Brain Stimulation DBS involves placing electrodes in specific regions of the brain. These regions are then stimulated with small, regular electrical impulses. This can help reduce the frequency and severity of the seizures. Side effects sometimes associated with DBS include: If seizures are not treated, they can cause several problems. Status Epilepticus Lack of treatment can lead to status epilepticus. Status epilepticus is when: Status epilepticus is a medical emergency. It is associated with increased risk of death and brain damage. SUDEP In the adolescent and adult years, frequent but brief night-time seizures are more common. They place a patient at risk of SUDEP. SUDEP stands for “sudden unexpected death in epilepsy.” All patients with difficult to control seizures are at risk for SUDEP. It can occur at any age. In adolescent and adult patients, nocturnal seizures and medication noncompliance are associated with a higher risk of SUDEP Development and Cognition In early childhood, frequent seizures may negatively impact development. When treatment is started late, development and cognition can be affected. Ongoing seizures can cause secondary symptoms for patients. However, various treatments, such as antiseizure medications, the ketogenic diet, and/or VNS, can help control the seizures Physical Therapy and Occupational Therapy This is helpful for children struggling with: Medications Medications are sometimes needed to treat: Individualized Education Plan (IEP) Many children with Dravet syndrome have some form of learning difficulty. They may need extra help in school. Special plans like an individualized educational program (IEP) can help. It is hard to completely control seizures in Dravet syndrome. However, treatment helps reduce the seizures. Treatment can also help decrease the occurrence of status epilepticus and SUDEP. The life expectancy of patients with Dravet syndrome is not well defined. Most children will have moderate to severe developmental delay or regression. Preventing status epilepticus at a younger age is important. This can help reduce future seizures and developmental delays. Most patients will have some degree of intellectual disability. It might be mild, moderate, or severe. Adolescents and adults often need some form of help with activities of daily living. Families caring for those with Dravet syndrome may have anxiety. The anxiety is multifactorial and stems from a number of different stressors, including: Any or all of the above can have a significant impact on a family’s financial needs. It can also have a negative impact on family members’ ability to work. It is not possible to outgrow this disorder. It is a lifelong disorder. However, as a patient gets older: The following is important to obtain good seizure control: In early childhood, this syndrome may be hard to differentiate from febrile seizures. Febrile seizures can sometimes present with status epilepticus. However, in Dravet syndrome, there are: MPSI is a rare, severe form of epilepsy affecting infants. Children with MPSI have: LGS is a severe epilepsy syndrome of childhood. In this condition: This is also known as Doose syndrome. It presents with a distinct seizure type called myoclonic-atonic seizures. These consist of a quick myoclonic jerk followed by a sudden loss of body tone resulting in a fall. As with Dravet syndrome, children will have febrile seizures in early infancy. However, focal seizures are not commonly seen in this form of epilepsy. Dravet Syndrome Foundation DSF hosts a private support group for parents on Facebook. If you would like to connect with other families, this is a great place to ask questions about living with Dravet syndrome. To join the group, please visit the Facebook page. Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF. ClinicalTrials.gov for Dravet syndrome are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently. ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details. Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits. Momentum 1 is a new research study sponsored by Eisai Inc. that is evaluating the safety and efficacy of an investigational drug called lorcaserin. (“Investigational” means that the drug is not approved by the FDA for use in Dravet syndrome or other epilepsies.) The study is investigating whether adding lorcaserin to a person’s current epilepsy medication will help reduce the number of seizures in people with Dravet syndrome when compared to a sugar pill (placebo). The Momentum 1 study will take place at approximately 25 sites across the US and Canada. In order to be eligible for participation, your child or your loved one need to meet the following criteria: Age two years and older, and confirmed diagnosis of epilepsy with Dravet syndrome. More information on the study and participating study locations can be found at http://momentum1study.org/. CNF is pleased to share this information behalf of Eisai Inc. Meet children who have been impacted by Dravet Syndrome by reading through their stories on the Dravet Syndrome Foundation website. The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only. CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. Dravet, C. (2011), The core Dravet syndrome phenotype. Epilepsia, 52: 3-9. https://doi.org/10.1111/j.1528-1167.2011.02994.x Genton, P., Velizarova, R. and Dravet, C. (2011), Dravet syndrome: The long‐term outcome. Epilepsia, 52: 44-49. https://doi.org/10.1111/j.1528-1167.2011.03001.x Marini, C., Scheffer, I.E., Nabbout, R., Suls, A., De Jonghe, P., Zara, F. and Guerrini, R. (2011), The genetics of Dravet syndrome. Epilepsia, 52: 24-29. https://doi.org/10.1111/j.1528-1167.2011.02997.x Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, Miller I, Sullivan J, Welborn M, Berg AT. Optimizing the diagnosis and management of Dravet syndrome: Recommendations from a North American consensus panel. Pediatr Neurol. 2017 Mar;68:18-34.e3. PMID: 28284397; http://doi.org/10.1016/j.pediatrneurol.2017.01.025 Brunklaus A. Ellis R. Reavey E. Forbes G.H. Zuberi S.M. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain. 2012; 135: 2329-2336. https://doi.org/10.1093/brain/aws151
University of Iowa, Stead Family Children’s Hospital, Iowa City, IA SUMMARY
JUMP TO
Disorder Overview
DESCRIPTION
Range of Severity
Risk of Death
SIGNS AND SYMPTOMS
First Year of Life
After the First Year
Seizure Types
Generalized tonic-clonic seizures
Hemiclonic seizures
Focal seizures, with and without impaired awareness
Myoclonic seizures
Atonic seizures or drop attacks
Atypical Absence seizures
CAUSES
LABORATORY INVESTIGATIONS
Brain MRI
EEG
Blood Testing
TREATMENT AND THERAPIES
Immediate Treatment for Seizures
Long-Term Treatment for Seizures
Valproic acid/valproate and clobazam
Stiripentol, topiramate, and levetiracetam
Cannabidiol
Fenfluramine
Surgical Options for Seizures
Untreated Seizures
Managing Other Symptoms
OUTLOOK
Care and Families
Changes Over Time
Ongoing Seizure Control
RELATED DISORDERS
Febrile Seizures
Migrating Partial Seizures of Infancy (MPSI)
Lennox-Gastaut Syndrome (LGS)
Myoclonic Atonic Epilepsy
Resources
The mission of Dravet Syndrome Foundation (DSF) is to aggressively raise research funds for Dravet syndrome and related epilepsies; to increase awareness of these catastrophic conditions; and to provide support to affected individuals and families. Research
Momentum 1
Family Stories
References
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