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

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.
 

Author(s): J Hsiao, T Y Yuan, M S Tsai, C Y Lu, Y C Lin, M L Lee, S W Lin, F C Chang, H Liu Pimentel, C Olive, C Coito, G Shen, M Young, T Thorne, M Lawrence, M Magistri, M A Faghihi, O Khorkova, C Wahlestedt

Journal: EBioMedicine. 2016 Jul;9():257-77.

 

Dravet syndrome is a devastating genetic brain disorder caused by heterozygous loss-of-function mutation in the voltage-gated sodium channel gene SCN1A. There are currently no treatments, but the upregulation of SCN1A healthy allele represents an appealing therapeutic strategy. In ...

Last Updated: 1 Aug 2016

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Audit of use of stiripentol in adults with Dravet syndrome.
 

Author(s): S Balestrini, S M Sisodiya

Journal: Acta Neurol. Scand.. 2017 Jan;135(1):73-79.

 

There are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability ...

Last Updated: 27 May 2016

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Incidence of Dravet Syndrome in a US Population.
 

Author(s): Yvonne W Wu, Joseph Sullivan, Sharon S McDaniel, Miriam H Meisler, Eileen M Walsh, Sherian Xu Li, Michael W Kuzniewicz

Journal: Pediatrics. 2015 Nov;136(5):e1310-5.

 

De novo mutations of the gene sodium channel 1α (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has been estimated at 1 in 40 000, but no US epidemiologic studies have been performed since the advent of genetic testing.

Last Updated: 3 Nov 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 26 free, full-text review articles on human participants. First 3 results:

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

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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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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

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Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome
 

Status: Recruiting

Condition Summary: Dravet Syndrome

 

Last Updated: 3 Feb 2017

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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: 26 Aug 2016

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