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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
 
 
Top

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

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
 

Author(s): Orrin Devinsky, J Helen Cross, Stephen Wright

Journal: N. Engl. J. Med.. 2017 08;377(7):699-700.

 

Last Updated: 16 Aug 2017

Go To URL
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
 

Author(s): Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, , Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer

Journal: Neurology. 2017 Sep;89(10):1035-1042.

 

To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.

Last Updated: 10 Aug 2017

Go To URL
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
 

Author(s): Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose

Journal:

 

Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary ...

Last Updated: 7 Jul 2017

Go To URL

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

Mortality in Dravet syndrome: A review.
 

Author(s): Sharon Shmuely, Sanjay M Sisodiya, W Boudewijn Gunning, Josemir W Sander, Roland D Thijs

Journal: Epilepsy Behav. 2016 Nov;64(Pt A):69-74.

 

Premature mortality is a major issue in Dravet syndrome (DS). To improve understanding of DS premature mortality, we conducted a comprehensive literature search with a particular emphasis on SUDEP.

Last Updated: 12 Oct 2016

Go To URL
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
 

Author(s): Jing-Qiong Kang, Robert L Macdonald

Journal: JAMA Neurol. 2016 Aug;73(8):1009-16.

 

In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid (GABAA) receptor γ2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene.

Last Updated: 9 Aug 2016

Go To URL
Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.
 

Author(s): Rajech Sharkia, Holger Hengel, Ludger Schöls, Muhammad Athamna, Peter Bauer, Muhammad Mahajnah

Journal:

 

Dravet syndrome, a rare genetic disorder with early-onset epileptic encephalopathy, was first described by Dravet in 1978. Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage-gated sodium channel.

Last Updated: 29 Mar 2016

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Compassionate Use of Stiripentol in Dravet Syndrome
 

Status: Available

Condition Summary: Dravet Syndrome

 

Last Updated: 3 Apr 2017

Go to URL
Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome
 

Status: Recruiting

Condition Summary: Dravet Syndrome

 

Last Updated: 3 Feb 2017

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

Status: Available

Condition Summary: Dravet Syndrome

 

Last Updated: 21 Aug 2017

Go to URL