In the classification of ilae 2 severe myoclonic epilepsy of infancy smei is included among epilepsies and syndromes undetermined as generalized or focal. Targeted resequencingin epileptic encephalopathies identifiesde novo mutations in chd2 and syngap1 gemmal. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. As the syndrome progresses, other seizure types emerge along with developmental and cognitive delays, behavioral impairments, and ataxia 4. Dravet syndrome genetic and rare diseases information. 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. 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. Genotypephenotype correlation in dravet syndrome with scn1a.
Dravet syndrome is a severe epileptic encephalopathy that begins in infancy with prolonged hemiclonic or tonicclonic seizures, often precipitated by fever. 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. Descargue como docx, pdf, txt o lea en linea desde scribd. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent andor prolonged seizures. Previously known as severe myoclonic epilepsy of infancy smei, it affects 1. 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. The condition appears during the first year of life as frequent feverrelated febrile seizures. 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. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births. 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.