National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Dravet Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- severe myoclonic epilepsy in infancy (SMEI)
- polymorphic epilepsy in infancy (PMEI)
- epilepsy with polymorphic seizures
- febrile seizures
- genetic epilepsy with febrile seizures plus (GEFS+)
- severe myoclonic epilepsy borderline (SMEB)
- intractable childhood epilepsy with generalized tonic clonic seizures
Dravet syndrome is a rare genetic epileptic encephalopathy (dysfunction of the brain) with onset during the first year in an otherwise healthy infant. Mutations of the SCN1A gene cause 79% of diagnosed cases of Dravet syndrome. Frequently referred to as a sodium channelopathy, this intractable epilepsy is characterized by unilateral (one-sided) clonic or tonic clonic (grand mal) seizures that are prolonged (> 5 minutes) or progress to status epilepticus (>30 minutes) and require emergency management. Myoclonic seizures, often called myoclonic jerks, are common. Over time seizures present without fever, illness or heat triggers. Seizures are frequent and resistant to treatment. The first seizure is often associated vaccine administration at six months of age. Between one and four years of age, children develop other seizure types including atypical absence, eyelid myoclonia and non-convulsive seizures. All seizure types may be prolonged or lead to status epilepticus. Seizures are intractable (uncontrollable) and combination drug therapy is necessary for acceptable seizure control. Some anti-epileptic drugs exacerbate seizures and should be avoided. In most cases, surgery is not indicated. The initial EEG is normal but within the second or third year of life, brief generalized spike, polyspike, or polyspike-wave paroxysms appear. MRI and metabolic studies are normal. Developmental delays appear to varying degrees in most patients by age two years and ataxia (abnormal gait) is common. Confirmation of diagnosis by genetic testing, appropriate and aggressive seizure management, and implementation of global therapies are necessary to improve the outcome of children affected with Dravet syndrome.
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PHP - Parents Helping Parents, Inc.
Sobrato Center For Nonprofits-San Jose
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American Epilepsy Society
342 North Main Street
West Hartford, CT 06117-2507
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
IDEA (International Dravet Syndrome Epilepsy Action) League
P.O. Box 797
Deale, MD 20751
Intractable Childhood Epilepsy Alliance (ICE)
PO Box 365
250 Lewisville-Vienna Road
Lewisville, NC 27023
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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html