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Dravet Syndrome Spectrum

Important
It is possible that the main title of the report Dravet Syndrome Spectrum 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

Disorder Subdivisions

  • febrile seizures
  • genetic epilepsy with febrile seizures plus (GEFS+)
  • epilepsy with mental retardation limited to females (EMRF)
  • severe myoclonic epilepsy borderline (SMEB)
  • ICE-GTC
  • Dravet syndrome

General Discussion

Dravet syndrome spectrum disorders are rare genetic epileptic encephalopathies (dysfunction of the brain) with onset during the first year of life in an otherwise healthy infant. There is a spectrum of severity ranging from no clinical symptoms, to simple febrile seizures, and extending to Dravet syndrome, which is the most severe. Mutations of the SCN1A gene cause 79% of diagnosed cases of Dravet syndrome. Frequently referred to as a sodium channelopathy, this intractable (uncontrollable) epilepsy is characterized by unilateral (one-sided) clonic or tonic clonic (grand mal) seizures that may be prolonged (> 5 minutes) or progress to status epilepticus (>30 minutes). Myoclonic seizures, often called myoclonic jerks, are common but not always present. Over time seizures present without fever, illness or heat triggers. Seizures are frequent and resistant to treatment. The first seizure is often associated with vaccine administration at six months of age. Infants eventually develop other seizure types including atypical absence, eyelid myoclonia and non-convulsive seizures. Multiple 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. Appropriate and aggressive seizure management, and implementation of global therapies are necessary to improve the outcome of children affected with Dravet syndrome spectrum disorders.

Resources

Epilepsy Foundation
8301 Professional Place
Landover, MD 20785-7223
Tel: (866)330-2718
Fax: (877)687-4878
Tel: (800)332-1000
TDD: (800)332-2070
Email: ContactUs@efa.org
Internet: http://www.epilepsyfoundation.org

PHP - Parents Helping Parents, Inc.
Sobrato Center For Nonprofits San Jose
1400 Parkmoor Avenue,
Suite 100
Santa Clara, CA 95126
USA
Tel: (408)727-5775
Fax: (408)286-1116
Tel: (866)747-4040
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: khucks@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
Internet: http://rarediseases.info.nih.gov/GARD/

Dravet.org
P.O. Box 797
Deale, MD 20751
USA
Tel: (443)607-8267
Email: info@Dravet.org
Internet: http://www.dravet.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

International League Against Epilepsy
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7547
Fax: (860)586-7550
Email: info@ilae.org
Internet: http://www.ilae.org/

Dravet Syndrome Foundation, Inc.
11 Nancy Drive
Monroe, CT 06468
Tel: (203)880-9456
Fax: (203)880-9456
Email: info@dravetfoundation.org
Internet: http://www.dravetfoundation.org/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/6/2012
Copyright  2009, 2012 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 04, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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