Sindrome de dravet pdf

Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent andor prolonged seizures. Influence of contraindicated medication use on cognitive outcome in dravet syndrome and age at first afebrile seizure as a clinical predictor in scn1arelated seizure phenotypes. Sep 08, 2009 dravet syndrome ds was named after charlotte dravet who described this condition for the first time in 1978 as severe myoclonic epilepsy, sme in a group of intractable epilepsy. Previously known as severe myoclonic epilepsy of infancy smei, it affects 1. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births. Dravet syndrome ds was named after charlotte dravet who described this condition for the first time in 1978 as severe myoclonic epilepsy, sme in a group of intractable epilepsy. Dravet syndrome is a severe epileptic encephalopathy that begins in infancy with prolonged hemiclonic or tonicclonic seizures, often precipitated by fever.

As the syndrome progresses, other seizure types emerge along with developmental and cognitive delays, behavioral impairments, and ataxia 4. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. Dravet syndrome genetic and rare diseases information. Produces delay in cognitive development as well as. Targeted resequencingin epileptic encephalopathies identifiesde novo mutations in chd2 and syngap1 gemmal. Charlotte dravet first described severe myoclonic epilepsy of infancy in centre saint paul, marseille france in 1978 and the name was later changed to dravet syndrome in 1989. Genotypephenotype correlation in dravet syndrome with scn1a. Dec 29, 2016 dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. Descargue como docx, pdf, txt o lea en linea desde scribd. Il gruppo famiglie dravet associazione onlus e lassociazione italiana delle famiglie con figli effetti dalla sindrome di dravet, grave forma di encefalopatia epilettica farmaco resistente. In the classification of ilae 2 severe myoclonic epilepsy of infancy smei is included among epilepsies and syndromes undetermined as generalized or focal. The condition appears during the first year of life as frequent feverrelated febrile seizures. The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy.