Dravet Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • severe myoclonic epilepsy in infancy (SMEI)
  • polymorphic epilepsy in infancy (PMEI)
  • epilepsy with polymorphic seizures

Disorder Subdivisions

  • febrile seizures
  • genetic epilepsy with febrile seizures plus (GEFS+)
  • severe myoclonic epilepsy borderline (SMEB)
  • intractable childhood epilepsy with generalized tonic clonic seizures
  • ICE-GTC

General Discussion

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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Resources

Epilepsy Foundation
8301 Professional Place
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: info@efa.org
Internet: http://www.epilepsyfoundation.org

PHP - Parents Helping Parents, Inc.
Sobrato Center For Nonprofits-San Jose
1400 Parkmoor Avenue
Suite 100
Sant Jose, CA 95126
USA
Tel: (408)727-5775
Fax: (408)286-1116
Tel: (866)747-4040
TDD: (408)727-5775
Email: info@php.com
Internet: http://www.php.com

American Epilepsy Society
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7505
Fax: (860)586-7550
Email: jamsden@aesnet.org
Internet: http://www.AESnet.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

IDEA (International Dravet Syndrome Epilepsy Action) League
P.O. Box 797
Deale, MD 20751
USA
Tel: (443)607-8267
Email: Baker@IDEA-League.org
Internet: http://www.idea-league.org

Intractable Childhood Epilepsy Alliance (ICE)
PO Box 365
250 Lewisville-Vienna Road
Lewisville, NC 27023
Tel: (336)918-9440
Fax: (336)946-1197
Internet: http://www.icepilepsy.org

For a Complete Report

For a Complete Report

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

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