Dravet Syndrome Spectrum
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Dravet Syndrome Spectrum is not the name you expected.
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.
American Epilepsy Society
- 135 South LaSalle Street
- Suite 2850
- Chicago, IL 60603
- Tel: 312-883-3800
- Email: firstname.lastname@example.org
- Website: http://www.aesnet.org
Dravet Syndrome Foundation, Inc.
- PO Box
- West Haven, CT 06516
- Tel: 203-392-1950
- Fax: 203-880-9456
- Email: email@example.com
- Website: http://www.dravetfoundation.org/
- 8301 Professional Place
- Landover, MD 20785-7223
- Tel: (866)330-2718
- Fax: (877)687-4878
- Tel: (800)332-1000
- Email: ContactUs@efa.org
- Website: http://www.epilepsyfoundation.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
- Website: http://rarediseases.info.nih.gov/GARD/
International League Against Epilepsy
- 342 North Main Street
- West Hartford, CT 06117-2507
- Tel: (860)586-7547
- Fax: (860)586-7550
- Email: firstname.lastname@example.org
- Website: http://www.ilae.org/
Intractable Childhood Epilepsy Alliance (ICE)
- PO Box 365
- 250 Lewisville-Vienna Road
- Lewisville, NC 27023
- Tel: (336)918-9440
- Fax: (336)946-1197
- Website: http://www.icepilepsy.org
PHP - Parents Helping Parents, Inc.
- Sobrato Center For Nonprofits San Jose
- 1400 Parkmoor Avenue,
- Santa Clara, CA 95126
- Tel: (408)727-5775
- Fax: (408)286-1116
- Tel: (866)747-4040
- Email: email@example.com
- Website: http://www.php.com
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 7/10/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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