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 79 free, full-text research articles on human participants. First 3 results:

Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe?
 

Author(s): F M Snoeijen-Schouwenaars, M J B M Veendrick, P van Mierlo, G van Erp, A J A de Louw, B U Kleine, H J Schelhaas, I Y Tan

Journal: Seizure. 2015 Jul;29():114-8.

 

In newly diagnosed patients with Dravet syndrome sodium channel blockers are usually avoided. However, in many adult patients the diagnosis was made long after the initiation of therapy. The purpose of our study was to acquire information concerning the potential risks and benefits ...

Last Updated: 16 Jun 2015

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Pharmacological characterization of an antisense knockdown zebrafish model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine.
 

Author(s): Yifan Zhang, Angéla Kecskés, Daniëlle Copmans, Mélanie Langlois, Alexander D Crawford, Berten Ceulemans, Lieven Lagae, Peter A M de Witte, Camila V Esguerra

Journal:

 

Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epilepsy syndromes. Distinct de novo mutations in the SCN1A gene are responsible for over 80% of DS cases. While DS is largely resistant to treatment with existing anti-epileptic drugs, promising ...

Last Updated: 13 May 2015

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The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.
 

Author(s): Allan Bayat, Helle Hjalgrim, Rikke S Møller

Journal: Epilepsia. 2015 Apr;56(4):e36-9.

 

Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A. We aimed to describe the incidence of Dravet syndrome in the Danish population. Based on a 6-year birth cohort from 2004 to 2009, we propose ...

Last Updated: 14 Apr 2015

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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 25 free, full-text review articles on human participants. First 3 results:

Dravet syndrome--from epileptic encephalopathy to channelopathy.
 

Author(s): Andreas Brunklaus, Sameer M Zuberi

Journal: Epilepsia. 2014 Jul;55(7):979-84.

 

Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS+) to the severe infant-onset ...

Last Updated: 21 Jul 2014

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 27 Jul 2015

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Compassionate Use of Stiripentol in Dravet Syndrome
 

Status: Available

Condition Summary: Dravet Syndrome

 

Last Updated: 17 Mar 2016

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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: 25 Sep 2015

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