Dravet syndrome
Synonyms: SMEI | Severe myoclonic epilepsy of infancy | Severe myoclonus epilepsy of infancy
A rare genetic developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile and associated with cognitive and motor impairment.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Dravet syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Cure GABA-A Variants
Our vision at Cure GABA-A is a future where individuals living with GABA-A Variants experience improved quality of life and have access to personalized treatments. We envision a world where repurposed FDA-approved drugs and gene therapies offer hope and relief to patients, effectively managing symptoms and addressing the underlying genetic causes of GABA-A Variants. Our organization has the sole focus of understanding the most efficient and effective way to develop potential therapies for GABA-A Variants.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Dravet Syndrome Foundation
The mission of Dravet Syndrome Foundation (DSF) is to aggressively raise funds for Dravet syndrome and related epilepsies; to support and fund research; increase awareness; and to provide support to affected individuals and families.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
SCN2A Asia Pacfic
To improve outcomes for families impacted by SCN2A through research and outreach programs
SCN2A Georgian Association
Spread awareness and to help families impacted by scn2a
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.