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Genetic and Rare Diseases Information Center (GARD)

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Dravet syndrome


Other Names for this Disease
  • Myoclonic epilepsy, severe, of infancy
  • Severe Myoclonic Epilepsy of Infancy
  • SME
  • SMEI
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Overview


Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures.[1] As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus.[1] A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases.[2] 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.[1][2] 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.[3]
Last updated: 6/21/2012

References

  1. NINDS Dravet Syndrome Information Page. National Institute of Neurological Disorders and Stroke. September 29, 2011 ; http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm. Accessed 6/20/2012.
  2. Infants and Epilepsy. Epilepsy Foundation. 2012; http://www.epilepsyfoundation.org/aboutepilepsy/syndromes/rareepilepsysyndromes/severe-myoclonic-epilepsy-of-infancy.cfm. Accessed 6/20/2012.
  3. Severe Myoclonic Epilepsy of Infancy. Online Mendelian Inheritance in Man (OMIM). February 2, 2012 ; http://omim.org/entry/607208. Accessed 6/20/2012.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dravet syndrome. Click on the link to view a sample search on this topic.

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