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Dravet Syndrome Spectrum

National Organization for Rare Disorders, Inc.

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

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

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.

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