Dravet syndrome

Common Name(s)

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

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

Selective Na1.1 activation rescues Dravet syndrome mice from seizures and premature death.
 

Author(s): Kay L Richards, Carol J Milligan, Robert J Richardson, Nikola Jancovski, Morten Grunnet, Laura H Jacobson, Eivind A B Undheim, Mehdi Mobli, Chun Yuen Chow, Volker Herzig, Agota Csoti, Gyorgy Panyi, Christopher A Reid, Glenn F King, Steven Petrou

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2018 08;115(34):E8077-E8085.

 

Dravet syndrome is a catastrophic, pharmacoresistant epileptic encephalopathy. Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death. The majority of affected individuals ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Not all 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 developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.

Last Updated: 31 Dec 1969

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

Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients.
 

Author(s): Maxine Dibué-Adjei, Igor Fischer, Hans-Jakob Steiger, Marcel Alexander Kamp

Journal: Seizure. 2017 Aug;50():147-152.

 

Dravet Syndrome (DS) is a severe epileptic encephalopathy of childhood involving intractable seizures, recurrent status epilepticus and cognitive decline. Because DS is a rare disease, available data is limited and evidence-based treatment guidelines are lacking. Vagus nerve stimulation ...

Last Updated: 31 Dec 1969

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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 11;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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome
 

Status: Recruiting

Condition Summary: Dravet Syndrome

 

Last Updated: 6 Feb 2018

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Compassionate Use of Stiripentol in Dravet Syndrome
 

Status: Available

Condition Summary: Dravet Syndrome

 

Last Updated: 8 May 2018

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