Severe infantile epilepsies: molecular genetics challenge clinical classification

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Abstract
In 1978, Charlotte Dravet described the ‘cryptogenic’ epilepsy syndrome severe myoclonic epilepsy of infancy (SMEI) (Dravet, 1978). This severe generalized epileptic encephalopathy begins at around 6 months of age with febrile hemiclonic or generalized status epilepticus. Hemiclonic status typically recurs involving each side independently. After 1 year of age, other seizure types appear including absence, partial, atonic and often myoclonic seizures. Early development is normal, with slowing and regression after 1 to 2 years; pyramidal features and ataxia may also evolve. The prognosis is poor. The recent draft proposal of the ILAE classification suggests the eponymous name Dravet syndrome instead of SMEI in recognition that not all cases experience myoclonic seizures (Engel, 2001).

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