Dravet Syndrome

Common Name(s)

Dravet Syndrome, Severe myoclonic epilepsy in infancy

Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases.  Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others.  In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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CNS Foundation

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

Last Updated: 12 Oct 2013

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dravet.org

dravet.org is the leading global patient advocacy organization for promoting and funding education, family support and medical research to find cures for Dravet Spectrum Disorders.

Last Updated: 19 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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dravet.org

dravet.org is the leading global patient advocacy organization for promoting and funding education, family support and medical research to find cures for Dravet Spectrum Disorders.

http://dravet.org

Last Updated: 19 Feb 2013

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

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.
 

Author(s): Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron

Journal:

 

Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze ...

Last Updated: 9 Dec 2013

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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
 

Author(s): Arvid Suls, Johanna A Jaehn, Angela Kecskés, Yvonne Weber, Sarah Weckhuysen, Dana C Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel M Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande S Caglayan, Beatriz G Giraldez, José Serratosa, Johannes R Lemke, Dorota Hoffman-Zacharska, Elzbieta Szczepanik, Nina Barisic, Vladimir Komarek, Helle Hjalgrim, Rikke S Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D Crawford, Anna-Elina Lehesjoki, Peter A M de Witte, Aarno Palotie, Holger Lerche, Camila V Esguerra, Peter De Jonghe, Ingo Helbig,

Journal: Am. J. Hum. Genet.. 2013 Nov;93(5):967-75.

 

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort ...

Last Updated: 11 Nov 2013

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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome.
 

Author(s): David S Auerbach, Julie Jones, Brittany C Clawson, James Offord, Guy M Lenk, Ikuo Ogiwara, Kazuhiro Yamakawa, Miriam H Meisler, Jack M Parent, Lori L Isom

Journal:

 

Dravet syndrome is a severe form of intractable pediatric epilepsy with a high incidence of SUDEP: Sudden Unexpected Death in epilepsy. Cardiac arrhythmias are a proposed cause for some cases of SUDEP, yet the susceptibility and potential mechanism of arrhythmogenesis in Dravet syndrome ...

Last Updated: 24 Oct 2013

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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: 16 Dec 2013

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Verapamil as Therapy for Children and Young Adults With Dravet Syndrome
 

Status: Recruiting

Condition Summary: Dravet Syndrome

 

Last Updated: 24 Oct 2013

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