Other Names for this Disease
- Severe Myoclonic Epilepsy of Infancy
- Myoclonic epilepsy, severe, of infancy
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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.Dravet syndrome is a severe form of
Last updated: 6/21/2012
- 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.
- Infants and Epilepsy. Epilepsy Foundation. 2012; http://www.epilepsyfoundation.org/aboutepilepsy/syndromes/rareepilepsysyndromes/severe-myoclonic-epilepsy-of-infancy.cfm. Accessed 6/20/2012.
- Severe Myoclonic Epilepsy of Infancy. Online Mendelian Inheritance in Man (OMIM). February 2, 2012 ; http://omim.org/entry/607208. Accessed 6/20/2012.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.