AIMS: @entity3148 ( @entity3148 ) is an @entity302 recognised by the ICE of 1985 and 1989 and in the proposal put forward by the ILAE Task Force on Classification and Terminology in 2001. In this paper, its historical development, nosological characteristics and treatment are described. DEVELOPMENT: Although identified by Dravet in 1978, it has been called severe @entity3148 in @entity950 since 1981. As an alternative the name @entity302 has also been put forward and in 2001 the ILAE recognised the eponym Dravet's syndrome. We describe how it may be mistaken for febrile @entity410 in the early stages and later for @entity5761 , Doose's @entity3148 and certain progressive @entity3148 . We outline the risk factors, recognised in 1992, that facilitate an early diagnosis and the defining clinical criteria established in 1984. We point out the existence of atypical forms due to the absence of some of the defining criteria, which will never be above one, to formulate a diagnosis of @entity3148 . The frequency with which a family background of febrile @entity410 and @entity302 appears seems to point to a genetic origin. Recently, de novo mutations have been found in the alpha subunit of the voltage dependent @entity1372 channel as well as mutations in the gamma subunit of the GABAA receptor. Nosologically, it is located in group 3 of the 1989 ICE, which corresponds to @entity302 without a focal determination, or which are generalised, and on the list of @entity302 /syndromes that was presented in 2001. @entity3148 is an @entity302 which is, in most cases, resistant to classical and new AED, and other more unusual treatment. The drugs that have proved to be more effective, although only relatively so, are @entity1771 , @entity1092 and the @entity1245 . At present another alternative that has appeared is @entity2808 . Intravenous use of immunoglobulins can be useful. CONCLUSIONS: Dravet's syndrome, admitted as such by the ILAE in 2001 and probably caused by de novo mutations in the @entity1372 channels or in the GABAA receptors, is one of the severest forms of @entity302 or no response to current antiepileptic drugs. Those that have been seen to be most effective are @entity1771 , the @entity1245 , @entity1092 and, more recently, @entity2808 .

[ XXXX (Dravet's syndrome). Its nosological characteristics and therapeutic aspects].

@entity5761 :: ('MESH:D065768', 'Disease') :: ['Lennox Gastaut syndrome'] @entity410 :: ('MESH:D012640', 'Disease') :: ['convulsions'] @entity1092 :: ('MESH:D014635', 'Chemical') :: ['valproate'] @entity1372 :: ('MESH:D012964', 'Chemical') :: ['sodium'] @entity1245 :: ('MESH:D001569', 'Chemical') :: ['benzodiazepines'] @entity1771 :: ('MESH:C052342', 'Chemical') :: ['topiramate'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epileptic syndrome', 'epilepsy syndrome', 'epilepsy', 'epileptic syndromes', 'epilepsy in infancy with very little', 'polymorphic epilepsy'] @entity3148 :: ('MESH:D004831', 'Disease') :: ['Severe myoclonic epilepsy in infancy', 'myoclonic astatic epilepsy', 'SMEI', 'myoclonic epilepsies', 'myoclonic epilepsy'] @entity950 :: ('MESH:C537702', 'Disease') :: ['infancy'] @entity2808 :: ('MESH:C021092', 'Chemical') :: ['stiripentol']
@entity3148 :: (MESH:D004831,Disease) :: ['Severe myoclonic epilepsy in infancy']
