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Definition

A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.

Acronym

EIEE6

Synonyms

Borderline SMEI
Dravet syndrome
Severe myoclonic epilepsy in infancy
SMEB
SMEB-M
SMEB-O
SMEB-SW
SMEI
SMEI-borderland
SMEI-borderland more than one feature
SMEI-borderland-myoclonic seizures
SMEI-borderland-spike wave

Keywords

Epilepsy

 
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