Myoclonic atonic epilepsy mae is also known as doose syndrome. Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive impairment, and a number of comorbidities including ataxiagait abnormalities and behavioral issues. Anticonvulsant effects of cannabidiol in dravet syndrome. The name was later changed to honor the doctor who discovered it. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births. Other features such as the eeg patterns and brain imaging are also considered. Dravet syndrome genetic and rare diseases information. Dravet syndrome new word suggestion medical a very rare severe form of childhood epilepsy that starts from infancy. Overview of dravet syndrome dravet syndrome, which is also referred to as severe myoclonic epilepsy of infancy. Recommendations from a north american consensus panel elaine c. Dravet syndrome, also referred to as severe myoclonic epilepsy of infancy or smei is a rare form of epilepsy that begins during infancy.
Dravet syndrome nord national organization for rare disorders. Symptoms include, developmental delays, sleeping conditions, and chronic infections. Original article optimizing the diagnosis and management of dravet syndrome. The grant is to fund research into dravet syndrome, a rare form of childhood epilepsy. Individuals with dravet syndrome have a mutation to their scn1a gene which likely occurred spontaneously in the egg or sperm before fertilization. Dravet syndrome as adult form of epileptic encephalopathy. Dravet syndrome also known as severe myoclonic epilepsy of infancy is a severe form of epilepsy, which usually appears during the first year of life as feverrelated seizures. About 80% of affected individuals have lossoffunction mutations in their scn1a gene. Research highlights the prevalence and features of autism in patients with dravet syndrome are assessed. Dravet syndrome ds previously named severe myoclonic epilepsy of infancy smei, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. Ds was first described by charlotte dravet in 1978 and was found to have a genetic basis in 2001, with discovery of mutations in the voltagegated. Mutations in the alpha1 subunit of the voltagegated sodium channel scn1a gene are identified in 70 to 80 percent of patients with ds. It begins in the first year of life in an otherwise healthy infant, and it is lifelong.
Kalume f, westenbroeck re, cheah cs, yu fh, oakley jc, scheuer t, catterall wa. The money was given by teammax, a fund set up in memory of max miller, who had dravet syndrome, and died as a result of sudep sudden unexpected death in epilepsy in june 2011. Dravet syndrome epilepsy disorders causing seizures. Here are 20 facts you shoud know about davet syndrome. Dravet syndrome is a rare, drugresistant epilepsy that begins in the first year of life in an otherwise healthy infant. The condition appears during the first year of life as frequent feverrelated febrile seizures. Longterm evolution of epileptic encephalopathies, nikanorova m, genton p, sabers a eds, john libbey eurotext, paris 2009.
Some of the symptoms associated with dravet syndrome include. Among patients with epilepsy, the incidence is 3%5% in the first year of life and 7% by the age of 3 years. Dec 29, 2016 the dravet syndrome foundation, inc, a nonprofit organization, offers information and support resources for dravet syndrome the national institute of neurological disorders and stroke ninds collects and disseminates research information related to neurological disorders. Dravet syndrome is a rare and severe type of epilepsy. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders.
In 1978, charlotte dravet first described dravet syndrome, and it was found to have a genetic basis in 2001. Dravet syndrome is a clinical diagnosis, meaning that the diagnosis is based on the age of onset of seizures, seizure types, and progression of symptoms. Ds is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures either focal or generalized, which are typically. Mutations of the scn1a gene cause up to 80% of diagnosed cases of ds. Epilepsy action and dravet syndrome uk have awarded a research grant to researchers at the uks institute of neurology. Dravet syndrome, previously known as severe myoclonic epilepsy of infancy smei, is a rare form of epilepsy usually presenting in the first 12 years of life. Dravet syndrome free download as powerpoint presentation. The population incidence of sudep in individuals with epilepsy. Optimizing the diagnosis and management of dravet syndrome. For language access assistance, contact the ncats public information officer. Initial seizures are most often prolonged events status. As the disease progresses, other types of seizures such as myoclonus and status epilepticus may also be seen. Dravet syndrome ds previously named severe myoclonic epilepsy of infancy smei, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized.
Dravet syndrome special needs resource and training blog. Although variable, the general prognosis for doose syndrome typically involves some form of intellectual disability as well as resistance to medication. Dravet syndrome is a rare form of epilepsy that starts when an otherwise healthy child is a baby the condition causes a lot of seizures that are hard to control. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Information regarding dravet syndrome spectrum disorders a rare genetic epileptic encephalopathies or dysfunction of the brain with onset occurring during first year of life. To help support families needs during the covid19 pandemic, weve launched a new online resource hub, gathering together advice, information and support services specific to coping with dravet syndrome during current lockdown and beyond. Seizures begin in the first year of life in an otherwise typically developing infant. Sudden unexpected death in a mouse model of dravet syndrome. Dravet syndrome is a severe epilepsy with many seizure types that begins in the first year of life. Valproate in the treatment of epilepsy in girls and women of childbearing potential.
Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as. Dec 28, 2018 dravet syndrome ds is a rare, genetic epileptic encephalopathy dysfunction of the brain with onset during the first year of life. Mar 27, 2019 dravet syndrome, previously called severe myoclonic epilepsy of infancy smei, is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. More than 80% of patients with dravet syndrome have a mutation in the scn1a gene rosander 2015, but not all scn1a mutations lead to dravet syndrome. If you have problems viewing pdf files, download the latest version of adobe reader. Berg phdb a child and adolescent neurology, mayo clinic, rochester. In the classification of ilae 2 severe myoclonic epilepsy of infancy smei is included among epilepsies and syndromes undetermined as generalized or focal. There is a high likelihood of recurrent status epilepticus.
The correct diagnosis of ds and appropriate followup are typically delayed. 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. Mae affects boys more than girls and starts in early childhood with the first seizure usually occurring between 2 to 6 years of age. Sudden unexpected death in epilepsy sudep is the most common cause of death in intractable epilepsies, but physiological mechanisms that lead to sudep are unknown. Dravet syndrome information page national institute of.
Pdf dravet syndrome ds, also known as severe myoclonic epilepsy of infancy smei, is one of the rare early childhood intractable epileptic. Dravet syndrome previously known as severe myoclonic epilepsy of infancy, smei, typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal usually hemiclonic and generalized tonicclonic seizures. Dravet syndrome is a rare form, of epilepsy found in children. Dravet syndrome ds is a rare, genetic epileptic encephalopathy dysfunction of the brain with onset during the first year of life. This is the first clinical study demonstrating autism in dravet syndrome. Dec 29, 2016 dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders. Dravet syndrome italian journal of pediatrics full text. A longterm followup study of dravet syndrome up to adulthood. Frequently referred to as a sodium channelopathy, this intractable epilepsy is characterized by unilateral onesided clonic or tonic clonic. Dravet syndrome is a type of severe epilepsy that develops during the first year of childhood and is characterized by frequent febrile seizures. Dravet syndrome, previously called severe myoclonic epilepsy of infancy smei, is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. The condition is marked by prolonged seizures during the first year of life and other seizure types emerging during the second year. Severe myoclonic epilepsy in infancy was first described in 1978 by charlotte dravet, who observed common features.
Dravet syndrome and the challenges of pediatric epilepsy. Dravet syndrome ds, or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. Dravet syndrome is unique, with the onset of recurrent, convulsive seizures, which are often prolonged and trig gered. Most children develop varying degrees of developmental disability. Dravet syndrome is a very rare form of childhood epilepsy. Also called severe myoclonic epilepsy of infancy submitted by. In addition to intractable seizures, affected individuals exhibit developmental delay, movement and balance abnormalities, delayed language development, sleep. Dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy smei, is a devastating epileptic syndrome. Dravet syndrome previously known as severe myoclonic epilepsy of infancy starts in early infancy and evolves through different stages to adulthood.
We studied the mechanism of premature death in scn1a heterozygous ko mice and conditional brain and cardiacspecific kos. Dravet syndrome introduction dravet syndrome is a severe epilepsy syndrome of infancy characterised by seizures of multiple types, often prolonged and particularly feversensitive, with onset in the first year of life, and. The typical form of severe myoclonic epilepsy in infancy combines. Dravet syndrome is an extremely rare epilepsy syndrome. Charlotte dravet first described severe myoclonic epilepsy of infancy in france, 1978. 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. Dravet syndrome international league against epilepsy. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent andor prolonged seizures. A cookie is a small file, which does not identify the user, but records information about the navigation of a computer on a site. Dravet syndrome is a rare genetic dysfunction of the brain epileptic encephalopathy. Dravet syndrome is among the most challenging electroclinical syndromes.
The dravet syndrome foundation, inc, a nonprofit organization, offers. Pronunciation of dravet syndrome with 1 audio pronunciation, 1 meaning, 5 translations and more for dravet syndrome. The incidence is 140000 o 120000 or 30000 in the general population. It is a rare disease, with an incidence of about 1. Dravet syndrome ds, also known as severe myoclonic epilepsy of infancy smei, is one of the rare early childhood intractable epileptic. The syndrome was first described in 1982 by a french doctor named charlotte dravet and was initially named severe myoclonic epilepsy of infancy. A family history of epilepsy or febrile seizures is present in approximately 25% of cases. 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. Efficacy and tolerability of the ketogenic diet in dravet syndrome. Out of 500 children with epilepsy, only one, or at most two, children are likely to have this form of epilepsy. Definition of dravet syndrome new word suggestion collins.
Dravet syndrome is a severe form of epilepsy that begins in infancy. Previously known as severe myoclonic epilepsy of infancy smei, it affects 1. Click on the link to view information on this topic. The epilepsy usually starts with seizures that may seem to be very similar to febrile convulsions. Dravet syndrome ds, previously known as severe myoclonic epilepsy in infancy. Main digest dravet syndrome spectrum disorders are rare genetic,epileptic encephalopathies, or dysfunction of a persons brain, with onset occurring during the first. Wirrell mda, linda laux mdb, elizabeth donner mdc, nathalie jette mdd,e, kelly knupp mdf,g, mary anne meskish, ian miller mdi, joseph sullivan mdj,k, michelle welborn pharm dl, anne t.
Other seizure types including myoclonic and atypical absence seizures appear between the age of 1. Typically, seizure onset is in the first year of life, usually with prolonged fever or. Clinical and genetic factors predicting dravet syndrome in infants with scn1a mutations. Pdf dravet syndrome ds is one of the refractory epileptic encephalopathies 3, one of the spectra of severe myoclonic epilepsy of infancy. The more typical features of dravet syndrome usually become more obvious. New dravetspecific online resource for coping with covid19 now available. Severe myoclonic epilepsy of infancy dravet syndrome. Studies have shown cannabis has the capability of reducing, and in some cases eliminating, seizures. Abstract researchers at the national hospital, queen square, great ormond street hospital, and other centers in the uk and melbourne, australia identified a series of 22 adult patients median age 39 years. Lgs is rare, but it is thought to constitute approximately 4% of all cases of pediatric epilepsy. Additionally, they are at significant risk of sudden unexplained death.
Additionally, they are at significant risk of sudden. It usually presents with a prolonged seizure with fever that affects one side of the body. Sudden unexpected death in epilepsy sudep is a rare, fatal complication of epilepsy defined as sudden death in an individual with epilepsy, in the absence of an obvious cause of death. The majority of patients with dravet syndrome exhibit some symptoms of autistic spectrum disorder. At least 70% of cases are due to heterozygote lossoffunction mutations in the scn1a gene. Clinical presentation the typical presentation occurs during the first six months to. 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. Patients with dravet syndrome with autism exhibit more severe mental retardation.
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