Dravet syndrome (2e édition)

Dravet syndrome is defined as a rare, genetic encephalopathy. It is characterised by infantile onset of intractable, often febrile seizures, and is associated with cognitive and motor impairment. The syndrome is considered a paradigm of developmental and epileptic encephalopathies by clinicians, scientists and regulatory agencies.

The initial descriptions of patients, made in 1978 by Dr. Dravet as “Severe myoclonic epilepsy in infancy”, identified the core syndrome manifestations and provided the bases for subsequent worldwide research that led to identifying it as a channelopathy caused by genetic abnormalities in the SCN1A gene. Pr. Guerrini contributed to the knowledge of the genetic bases and response to antiseizure medications of the

syndrome. Since then, new molecules have emerged, and studies on cognitive and motor development have characterised the outcome, including in adulthood. Families’ associations and disease registri