DRAVET SYNDROME IN SOUTH AFRICAN INFANTS: TOOLS FOR AN EARLY DIAGNOSIS

Dravet syndrome (DS) (OMIM 607208), previously described as severe myoclonic epilepsy of infancy (SMEI) is a severe genetic epilepsy with associated encephalopathy.[1] Early clinical presentation of DS is characterised by the onset of prolonged, febrile and afebrile generalized clonic or hemiclonic seizures in an otherwise normally developing infant. Seizures are usually resistant to typically prescribed anti-epileptic drugs (AEDs) and evolve with the disease progression to include myoclonic, atypical absences and focal seizures.

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