Publication of this supplement was made possible by the generous support of dravet italia onlus, biocodex, gw pharma, zogenix, fondazione. Dravet syndrome overview dravet syndrome is a neurological rare. At present, the girl suffers a mild mental disorder, and seizures. Epilepsy is a neurologic condition and its patients have higher mortality rates than healthy individuals. Dravet syndrome ds is an infantileonset intractable epilepsy caused by heterozygous lossoffunction mutations in the scn1a gene, which encodes brain typei voltagegated sodium channel na v 1.
We studied the mechanism of premature death in scn1a heterozygous ko mice and conditional brain and cardiacspecific kos. The incidence is 140000 o 120000 or 30000 in the general population. Dravet syndrome nord national organization for rare disorders. Dravet syndrome ds, or severe myoclonic epilepsy in infancy, is one of the most severe types of. Dravet syndrome foundation is a nonprofit organization dedicated to aggressively raising research funds for dravet syndrome, a rare and catastrophic form of epilepsy beginning in childhood, and. Produces delay in cognitive development as well as. Anticonvulsant effects of cannabidiol in dravet syndrome. Most of the patients are seizure free up to the age of five months and first. Fenfluramine for treatmentresistant seizures in patients. Summary brain magnetic resonance imaging mri studies in patients with dravet syndrome and scn1a mutations have shown abnormal. Pdf dravet syndrome a case report from aseer, saudi arabia. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births.
One of the most frequent death causes in epilepsy is sudep. 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. 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. Pdf dravet syndrome is a relatively rare disease, discovered only 4. Dravet syndrome ds is a severe developmental epileptic encephalopathy with an incidence of 1. If you have problems viewing pdf files, download the latest version of adobe reader. Dravet syndrome ds is one of the most intractable forms of epilepsy that begins in infancy. Ketogenic diet in patients with dravet syndrome caraballo. Seizures in children with scn1arelated dravet syndrome occurred more often with a body temperature below 38. Dravet syndrome ds is a severe form of epilepsy characterized by frequent. Neuroimaging and neuropathology of dravet syndrome guerrini.
Dravet syndrome foundation, inc dsf genetic and rare. For language access assistance, contact the ncats public information officer. Since then, ds has been recognized as an independent epileptic syndrome with characteristic features in many countries. Summary objective dravet syndrome ds is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged. Dravet syndrome ds, also known as severe myoclonic epilepsy of. Dravet syndrome is a severe epilepsy with many seizure types that begins in the first year of life. In the classification of ilae 2 severe myoclonic epilepsy of infancy smei is included among epilepsies and syndromes undetermined as generalized or focal. A genetic study, that dravet foundation provides free of charge, turned up positive for scn1a. 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. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. More than 80% of patients with dravet syndrome have a mutation in the 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. Clinical and molecular analysis of epilepsyrelated genes in patients with dravet syndrome. At present, the girl suffers a mild mental disorder.
Severe myoclonic epilepsy in infants or dravet syndrome ds is one of the most malignant epileptic syndromes and was first described and characterized by dravet et al. About 80% of affected individuals have lossoffunction mutations in their scn1a gene. As of june 2017, the dravet syndrome pipeline comprises at least drug candidates, of which 3 are in latestage placebocontrolled phase ii or iii trials. Patients with dravet syndrome in the era of stiripentol. 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. 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. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free.
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