What is Dravet Syndrome?
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy that begins in infancy, with an estimated incidence rate of 1:15,700 . It is a debilitating, life-long condition that can severely impede the quality of life of the patient. Patients experience frequent seizures, poor seizure control, and developmental delays. Initial seizures are most often prolonged events and in the second year of life other seizure types begin to emerge. Development remains on track initially, with plateaus and a progressive decline typically beginning in the second year of life. Individuals with Dravet syndrome face a higher incidence of SUDEP (sudden unexplained death in epilepsy) and have associated health issues, which also need to be properly treated and managed. These conditions include:
- behavioral and developmental delays
- movement and balance issues
- orthopedic conditions
- delayed language and speech issues
- growth and nutrition issues
- sleeping difficulties
- chronic infections
- sensory integration disorders
- disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating)
Children with Dravet syndrome do not outgrow this condition and it affects every aspect of their daily lives.
Unless a cure or better treatments for Dravet syndrome and related epilepsies are found, individuals with these disorders may face a diminished quality of life. Current treatment options are extremely limited and the prognosis for these children can be poor. The constant care and supervision of an individual with such highly specialized needs is emotionally and financially draining on the family members who care for these individuals.
We invite you to watch the video collection on our YouTube channel These videos include families stories as well as frequently asked questions, answered by professionals.
SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. These epilepsy syndromes include:
- Febrile Seizures (FS)
- Generalized Epilepsy with febrile seizures plus (GEFS+)
- Severe Infantile Multifocal Epilepsy (SIMFE)
- Severe Myoclonic Epilepsy of Infancy Borderline (SMEB)
- Severe Myoclonic Epilepsy of Infancy (SMEI/Dravet Syndrome)
- Epilepsy and mental retardation limited to females (EFMR/PCDH19)
- Sporadic Infantile Epileptic Encephalopathy (SIEE)
- Intractable Childhood Epilepsy with Generalized Tonic Clonic Seizures (ICE-GTC)