Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Dravet Syndrome


Synonyms of Dravet Syndrome
  • epilepsy with polymorphic seizures
  • polymorphic epilepsy in infancy (PMEI)
  • severe myoclonic epilepsy in infancy (SMEI)

Disorder Subdivisions

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


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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Organizations related to Dravet Syndrome
  • American Epilepsy Society
    342 North Main Street
    West Hartford CT 06117-2507
    Phone #: 860-586-7505
    800 #: --
    e-mail: info@AESnet.org
    Home page: http://www.AESnet.org
  • Epilepsy Foundation
    4351 Garden City Drive
    Landover MD 20785
    Phone #: 301-459-3700
    800 #: 800-332-1000
    e-mail: postmaster@efa.org
    Home page: http://www.epilepsyfoundation.org
  • IDEA League
    PO Box 803338 #18880
    Chicago IL 60680-3338
    Phone #: 312-821-9020
    800 #: 888-402-4332
    e-mail: info@idea-league.org
    Home page: http://www.idea-league.org
  • Intractable Childhood Epilepsy Alliance (ICE Epilepsy Alliance)
    PO Box 365
    Lewisville NC 27023
    Phone #: 336-918-9440
    800 #: N/A
    e-mail: N/A
    Home page: http://www.icepilepsy.org
  • PHP - Parents Helping Parents, Inc.
    3041 Olcott Street
    Santa Clara CA 95054-3222
    Phone #: 408-727-5775
    800 #: 866-747-4040
    e-mail: info@php.com
    Home page: http://www.php.com



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