Dravet Syndrome History

The history of Dravet Syndrome

Dravet syndrome is a rare and severe form of early onset epileptic syndrome beginning in infancy characterized by refractory seizures and neurological development disorders. The first seizure occurs in the first year of life (usually at 5-8 months of age) in a normal developing child (Dravet et al. 2011).
“Severe Myoclonic Epilepsy in Infancy” (SMEI) was first described in 1978 by Dr. Charlotte Dravet and has been renamed as “Dravet syndrome” since 2001 (Dravet et al. 1978; Engel et al. 2001).

The initial clinical description was:

  • The first seizure appears before the age of one year in an otherwise normally developing infant.
  • The first convulsive seizures (clonic or tonic-clonic) are often associated with fever. They are often prolonged (> 5 minutes and sometimes more than one hour) and require emergency treatments.
  • Between the ages of 1 and 5 years, other types of seizures develop (myoclonic seizures, atypical absences, partial (focal) seizures) accompanied by developmental regression or stagnation with behavioural disorders. The brain CT scan remains normal.
Because not all of these clinical signs (myoclonic seizures) were found to be present in every patient and since the syndrome persists into adulthood, the terms “myoclonic” and “infancy” were no longer appropriate. Therefore, in 2001, the International League Against Epilepsy changed the epilepsy syndrome name from “SMEI” to “Dravet syndrome” (Engel et al. 2001).
Despite several epidemiologic studies, the exact frequency of Dravet syndrome in the general population is unclear. The incidence of Dravet syndrome in Europe ranges from 1 in 40,000 to 1 in 22,000 (Hurst et al. 1990) and affects an estimated 1 in 15,700 individuals in the United States (Wu et al. 2015).
Dravet syndrome affects males and females in equal proportions (Skluzacek et al. 2011).

Dravet Syndrome History - Milestones