What is a Dravet syndrome?

Definition. Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe.

Is Dravet syndrome terminal?

Dravet syndrome is a rare, drug-resistant epilepsy that begins in the first year of life in an otherwise healthy infant. It is lifelong. It usually presents with a prolonged seizure with fever that affects one side of the body. Most cases are due to severe SCN1A gene mutations.

Is Dravet syndrome congenital?

Causes. In most cases the mutations in Dravet syndrome are not hereditary and the mutated gene is found for the first time in a single family member. In 70–90% of patients, Dravet syndrome is caused by nonsense mutations in the SCN1A gene resulting in a premature stop codon and thus a non-functional protein.

What is the cause of Dravet syndrome?

Dravet syndrome is a genetic disorder that is caused by a mutation in the SCN1A gene.

What is the history of Dravet syndrome?

Dravet syndrome is a rare and severely disabling type of epilepsy presenting in infancy, sometimes called a catastrophic epilepsy. It was first described in 1978 by Charlotte Dravet, a paediatric epilepsy specialist working in Marseille.

What is the prevalence of Dravet syndrome?

Dravet syndrome affects an estimated 1:15,700 individuals in the U.S., or 0.0064% of the population (Wu 2015). Approximately 80-90% of those, or 1:20,900 individuals, have both an SCN1A mutation and a clinical diagnosis of DS. This represents an estimated 0.17% of all epilepsies. Dravet syndrome is a clinical diagnosis.

How does Dravet syndrome affect development?

Children with Dravet syndrome typically experience a lagged development of language and motor skills, hyperactivity and sleep difficulties, chronic infection, growth and balance issues, and difficulty relating to others .