Dravet syndrome

Common Name(s)

Dravet syndrome, Severe myoclonic epilepsy in infancy, Polymorphic epilepsy in infancy, PMEI, Epilepsy with polymorphic seizures

Dravet syndrome is a rare genetic form of epilepsy (seizure disorder) that begins during the first year of life. A mutation in gene SCN1A is responsible for Dravet syndrome. When this gene isn’t working properly, sodium channels in the brain (which help brain cells function) do not work correctly. Development is usually normal until age two but then further development becomes delayed. The severity of cognitive (intellectual) impairment is related to the frequency and duration of seizures. Children will not outgrow Dravet syndrome. About 1 in 300,000 babies born will have Dravet syndrome.

The first seizure is often associated with a fever. This type of 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 or more). 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. Future seizures may be triggered by slight changes in body temperature, flashing lights, emotional stress or excitement.

Diagnosis relies on seizure history as well as neurological exams and special tests like an EEG. About 80% of cases can be confirmed by genetic testing. Children diagnosed with Dravet syndrome will have multiple disabilities and associated complications. Treatment is aimed to find the best combination of medications that will prevent and treat seizure emergencies as well as addressing the other symptoms and delays. Physical, occupational, speech, and social/play therapies may be recommended for young children. Special diets may also be beneficial. Research is ongoing. If your child has been diagnosed with Dravet syndrome, talk to their pediatrician and specialists about the most current treatment options. Support groups may also be a good source of information and a community of support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dravet syndrome" for support, advocacy or research.

Dravet Syndrome Foundation

The mission of Dravet Syndrome Foundation (DSF) is to aggressively raise research funds for Dravet syndrome and related epilepsies; to increase awareness of these catastrophic conditions; and to provide support to affected individuals and families.

Last Updated: 21 Apr 2015

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Epilepsy Foundation - Home Office

The mission of the Epilepsy Foundation is to stop seizures and SUDEP, find a cure and overcome the challenges created by epilepsy through efforts including education, advocacy and research to accelerate ideas into therapies.

Last Updated: 28 Apr 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dravet syndrome" for support, advocacy or research.

Dravet Syndrome Foundation

The mission of Dravet Syndrome Foundation (DSF) is to aggressively raise research funds for Dravet syndrome and related epilepsies; to increase awareness of these catastrophic conditions; and to provide support to affected individuals and families.

http://www.dravetfoundation.org/

Last Updated: 21 Apr 2015

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Epilepsy Foundation - Home Office

The mission of the Epilepsy Foundation is to stop seizures and SUDEP, find a cure and overcome the challenges created by epilepsy through efforts including education, advocacy and research to accelerate ideas into therapies.

http://www.epilepsy.com

Last Updated: 28 Apr 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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General Support Organizations

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General Resources

DSF Website

DSF's website provides information for caregivers and professional on the diagnosis, management and treatment of Dravet syndrome.

Updated 21 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dravet syndrome" returned 33 free, full-text research articles on human participants. First 3 results:

Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome.
 

Author(s): Alfonso Fasano, Felippe Borlot, Anthony E Lang, Danielle M Andrade

Journal: Neurology. 2014 Jun;82(24):2250-1.

 

Last Updated: 17 Jun 2014

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GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
 

Author(s): Gemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, Corinna Hartmann, Rikke S Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J O'Roak, Steve Petrou, Alison Clarke, Deepak Gill, Lynette G Sadleir, Hiltrud Muhle, Sarah von Spiczak, Marina Nikanorova, Bree L Hodgson, Elena V Gazina, Arvid Suls, Jay Shendure, Leanne M Dibbens, Peter De Jonghe, Ingo Helbig, Samuel F Berkovic, Ingrid E Scheffer, Heather C Mefford

Journal: Neurology. 2014 Apr;82(14):1245-53.

 

To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing.

Last Updated: 8 Apr 2014

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Occipital seizures induced by intermittent photic stimulation in Dravet syndrome.
 

Author(s): Nicola Specchio, Giuseppe Pontrelli, Domenico Serino, Marina Trivisano, Simona Cappelletti, Alessandra Terracciano, Federico Vigevano, Lucia Fusco

Journal: Seizure. 2014 Apr;23(4):309-13.

 

Dravet syndrome (DS) is a rare disorder with seizure onset in the first year of life, typically beginning with prolonged febrile hemiclonic seizures or generalized tonic-clonic seizures. Photosensitivity is reported in more than 40% of patients. We present two cases of DS in which ...

Last Updated: 28 Mar 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dravet syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Dravet syndrome: a genetic epileptic disorder.
 

Author(s): Mari Akiyama, Katsuhiro Kobayashi, Yoko Ohtsuka

Journal: Acta Med. Okayama. 2012 ;66(5):369-76.

 

Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the ...

Last Updated: 24 Oct 2012

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SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.
 

Author(s): Alex C Bender, Richard P Morse, Rod C Scott, Gregory L Holmes, Pierre-Pascal Lenck-Santini

Journal: Epilepsy Behav. 2012 Mar;23(3):177-86.

 

Dravet syndrome (DS) is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment. Animal studies have revealed new insights into the mechanisms by which mutations in this gene, encoding the type ...

Last Updated: 19 Mar 2012

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[Dravet syndrome as a cause of epilepsy and learning disability].
 

Author(s): Caroline Lund, Anna Bremer, Morten I Lossius, Kaja Kristine Selmer, Eylert Brodtkorb, Karl O Nakken

Journal: Tidsskr. Nor. Laegeforen.. 2012 Jan;132(1):44-7.

 

Dravet syndrome is a severe, genetic epileptic encephalopathy with seizures starting during the first year of life. We present a review of the genetic and clinical picture along with treatment aspects.

Last Updated: 13 Jan 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies
 

Status: Available

Condition Summary: Dravet Syndrome; Epileptic Encephalopathies Associated With SCN1A Mutations

 

Last Updated: 10 Sep 2014

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Compassionate Use of Stiripentol in Dravet Syndrome
 

Status: Available

Condition Summary: Dravet Syndrome

 

Last Updated: 2 Dec 2014

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Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome
 

Status: Available

Condition Summary: Dravet Syndrome

 

Last Updated: 10 Sep 2014

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