Dravet Syndrome | Symptoms, Genetic testing
- Rare disease series | 23. 01. 12
About DRAVET SYNDROME
DRAVET SYNDROME is a severe form of rare genetic seizure disorder, which symptoms include frequent and prolonged seizures.
80~90% of its cases occur from mutations in the SCN1A gene on chromosome 2.
PREVALENCE / ONSET
Prevalence
Dravet syndrome affects approximately 1 in 40,000 globally. It is estimated to affect 1 in 28,000 individuals in the UK and 1 in 15,700 in the US.
Onset
The symptoms of Dravet syndrome are present within a year after birth.
SYMPTOMS
DIAGNOSIS
The diagnosis of Dravet syndrome is based on finding its unique characteristics from clinical evaluation.
Genetic testing for SCN1A mutation and other epilepsy-related genes can help confirm the diagnosis.
INHERITANCE PATTERN
90% of Dravet syndrome cases occur from new(de novo) mutations in the SCN1A gene. However, in some cases, it has been found to inherit in an autosomal dominant pattern.
TREATMENTS
Currently, there is no cure for Dravet syndrome. Most treatments focus on reducing the frequency and length of seizures.
The medications used to treat seizures can be grouped into ‘First Line,’ ‘Second Line,’ and ‘Third Line’ depending on the severity of the seizures.
Rescue medications could also be necessary to stop prolonged seizures in emergencies.
You can find the list of the medications at NORD, Dravet Syndrome Foundation, or dravetsyndromenews.
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Seung Woo Ryu
Medical geneticist focused on clinical molecular genetics for rare diseases, dedicated to delivering accurate and accessible diagnostics to patients in need.
