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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 for Rare Disorders

    Last Updated: May 28, 2015
    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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