What is Dravet syndrome?
Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy that begins in infancy. It is a debilitating, life-long condition that can severely impair the quality of life of the patient.
Patients experience frequent seizures, poor seizure control and developmental delays. Initial seizures are most often prolonged events when your child becomes feverish and in the second year of life other seizure types (often without fever) begin to emerge.
What causes Dravet syndrome?
While a diagnosis of Dravet syndrome is made clinically, up to 80% of cases will also test positive for an SCN1A gene mutation, helping to confirm the diagnosis. It is important to note that the absence of an SCN1A mutation does not exclude diagnosis.
How can my child get genetic testing?
Genetic testing is commercially available in most countries. Upon receiving a positive genetic test result, parents may also be tested to establish inheritance.
Who gets Dravet?
Dravet syndrome occurs randomly; even though it is a genetic disease, the mutations are most often new mutations affecting only the child with the syndrome. In other words, the gene mutation is not present in other family members.