1.
Pakistan Pediatric Journal. 2013; 37 (4): 252-256
in English
| IMEMR
| ID: emr-139806
ABSTRACT
It was first described by Charlotte Dravet in 1978 and has been recognized as a syndrome by the International League Against Epilepsy since 1989. It starts in the first year of life frequently with febrile seizures [FS] in an, otherwise, normal infant. This is followed by refractory and mixed type of seizures. [Dravet's syndrome] [DS] previously named severe myoclonic epilepsy of infancy [SMEI], or epilepsy with polymorphic seizures. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A, that is also mutated in generalized epilepsy with FS+ [GEFS+]