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. Produces delay in cognitive development as well as. Descargue como docx, pdf, txt o lea en linea desde scribd. Genotypephenotype correlation in dravet syndrome with scn1a. 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. 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.
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 epileptic encephalopathy that begins in infancy with prolonged hemiclonic or tonicclonic seizures, often precipitated by fever. Dec 29, 2016 dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births. 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. 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.
1286 646 871 107 1538 828 313 105 616 1447 92 793 51 1391 1066 700 1050 858 1563 926 1404 345 1057 380 87 1389 1334 1381 419 1211 1323 1383