Severe infantile epilepsies: molecular genetics challenge clinical classification
2003; Oxford University Press; Volume: 126; Issue: 3 Linguagem: Inglês
10.1093/brain/awg047
ISSN1460-2156
Autores Tópico(s)Metabolism and Genetic Disorders
ResumoIn 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). SMEI is associated with a family history of seizures in 50% of patients. Affected relatives of SMEI probands have epilepsy subsyndromes such as febrile seizures and mild generalized epilepsies. These phenotypes are consistent with the generalized epilepsy with febrile seizures plus (GEFS+) spectrum (Singh et al ., 2001). GEFS+ is a familial epilepsy syndrome characterized by heterogeneous phenotypes with most individuals having benign childhood seizure disorders ranging from classical ‘febrile seizures’ to ‘febrile seizures plus’ where febrile seizures continue past early childhood or afebrile convulsions occur (Scheffer and Berkovic, 1997). Within the …
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