Myoclonicastatic epilepsy of early childhoodclinical and eeg analysis of myoclonic astatic seizures, and discussions on the nosology of the syndrome. Seizures can be followed by drop attacks, which can lead to falls and injuries. Emas starts in early childhood with the first seizure occurring between 7 months to 6 years of age. Incidence100,000 200 150 100 50 0 0 20 40 60 80 100 age hauser, epilepsia 33.
This is the talk page for discussing improvements to the myoclonic astatic epilepsy article. Myoclonic astatic epilepsy mae or doose syndrome is a generalized epilepsy and neuroimaging mri is almost always unremarkable. It typically occurs in otherwise healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonicclonic seizures gtcs, and absence seizures. It has long been argued about the classification of cryptogenic or idiopathic myoclonic epilepsies during childhood 1,2. It is characterized by the development of myoclonic seizures andor myoclonic astatic seizures. Aed therapy in children with epilepsy treatment of. Myoclonic astatic epilepsy mae of doose is a generalized epilepsy syndrome of young children characterized by multiple seizure typespredominantly myoclonic seizures ms, astatic seizures as, and myoclonic astatic seizures mas, as well as with generalized tonicclonic gtc, absence, myoclonic absence, and tonic seizures doose, 1992. The myoclonic seizures in both syndromes are similar. Children will experience drop and staring seizures, sometimes associated with falls. It is usually characterised by generalised seizures, which may vary in type and frequency. Aed therapy in children with epilepsy nondrug treatment issues.
In myoclonic astatic epilepsy, myoclonic andor myoclonic astatic seizures occur in 100%, and multiple other seizure types can coexist. Myoclonic atonic epilepsy is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. However, the actual genetic make up for mae is unknown. Myoclonicastatic epilepsy mae is a generalized epileptic syndrome of childhood with an unknown etiology with a variable evolution. Doose64 described a group of children with myoclonic and astatic seizures, often in combination with absence, generalized tonicclonic, and tonic seizures. Zonisamide in the management of epilepsy japanese experience. The epilepsy and especially the epileptic activity on eeg is frequently severe enough to result in developmental problems or even regression, a phenomenon referred to as epileptic encephalopathy. The seizures were investigated precisely by videoeeg n5, polygraph n2, and videopolygraph n23, which identified myoclonic seizures in 16 cases myoclonic.
People with the condition may experience several seizures each day. Instruction manual for the ilae 2017 operational classification of. Epilepsy with myoclonicatonic seizures previously known as epilepsy with myoclonic astatic seizures, or doose syndrome is a syndrome characterized by the presence of myoclonicatonic seizures in an otherwise normal child who may have a history of febrile andor afebrile seizures. Myoclonicastatic epilepsy doose syndrome pediatric focus. Myoclonicastatic epilepsy epilepsy petit mal myoclonic astatic. This is not a forum for general discussion of the articles subject put new text under old text. Delineation of cryptogenic lennoxgastaut syndrome and. Myoclonic astatic epilepsy doose syndrome epilepsy action. Myoclonic seizure has been found to be a main seizure type in juvenile myoclonic epilepsy, severe and benign myoclonic epilepsies, and cryptogenic myoclonic astatic epilepsy, etc. An epilepsy syndrome with an age of onset of 1860 months, characterised by different seizure types with myoclonic and myoclonic astatic seizures seen in all, causing children to fall. The eeg shows generalised spikepolyspike and wave activity at 26 hz. Epilepsy research 36 1999 1529 delineation of cryptogenic lennoxgastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis a. Doose syndrome mae myoclonic astatic epilepsy epilepsy. These seizures, myoclonic astatic or myoclonic atonic seizures, eventually became the defining feature of an epilepsy syndrome referred to as myoclonic astatic epilepsy or doose syndrome.
Myoclonicastatic epilepsy of early childhood mae was first described by doose and has been included as cryptogenic epilepsy with myoclonic astatic seizures in the international classification of epileptic syndrome 8,34. A oneminute consult to over 450 key epilepsy terms a b. Myoclonic epilepsy, juvenile, 1 see more, gard information navigator try our interactive tool for help finding information, services, experts, financial aid, and more. Summary summary listen juvenile myoclonic epilepsy is an epilepsy syndrome. Mae is typically treated with antiseizure medications that are used for generalized epilepsy syndromes, with perhaps a best response to valproate, felbamate, or the ketogenic diet. Myoclonic astatic epilepsy mae, classified among the generalized epilepsies, is characterized by generalized seizures that begin in early to midchildhood, typically with a stormy onset including myoclonic, myoclonic atonic, absence, and generalized tonicclonic seizures and nonconvulsive status epilepticus. Epilepsy with myoclonicatonic seizures emas is typically known as myoclonicastatic epilepsy or doose syndrome. Operational classification of seizure types by the international. Epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early. Epilepsy with myoclonicatonic seizures genetic and rare diseases. Myoclonicastatic epilepsy, also known as doose syndrome, is a type of idiopathic childhood epilepsy presenting with astatic as well as myoclonic component. Myoclonic astatic epilepsy an overview sciencedirect. Doose syndrome mae myoclonic astatic epilepsy doose syndrome is an epilepsy syndrome of childhood, that is often resistant to medication and for this reason it is typically difficult to treat.
To identify neuronal networks underlying generalized spike and wave discharges gsw in myoclonic astatic epilepsy mae. In 1989, the international league against epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed epilepsy with myoclonicatonic seizures. Eegfmri in myoclonic astatic epilepsy doose syndrome. Myoclonic astatic epilepsy of early childhoodclinical and eeg analysis of myoclonic astatic seizures, and discussions on the nosology of the syndrome. The international league against epilepsy ilae presents a revised operational clas. Many studies suggest a strong genetic basis for mae. The mainstays of medical therapy for myoclonic epilepsy are valproic acid sodium valproate, ethosuximide, or benzodiazepines clonazepam or clobazam. Myoclonic astatic epilepsy mae, or doose syndrome, is a rare severe childhood epilepsy associated with unspecific developmental problems. It presents in children with previously normal development but can cause some degree of mental disturbance later in life. Epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early childhood. Myoclonic epilepsy beginning in infancy or early childhood. Sodium channel dysfunction in epilepsy and migraine edited by professor yasser metwally. Epilepsy with myoclonicatonic seizures genetic and rare.
In 2017, the ilae released a new classification of seizure types, largely based upon the existing. Epilepsy with myoclonicatonic seizures doose syndrome. Myoclonic seizures occur in about 1128% of cases of lennoxgastaut syndrome oguni et al. Sodium channel dysfunction in epilepsy and migraine. Lennoxgastaut syndrome and myoclonic astatic epilepsy. In this syndrome, astatic seizures defined as seizures during which the patient is unable to stand occurred suddenly, without warning, and the children collapsed onto the floor as if their legs had been pulled from under. Myoclonic astatic epilepsy doose syndrome childhood. Individual gswassociated blood oxygenation leveldependent bold signal changes were analyzed in every patient. Epilepsy 118 epilepsy with continuous spike waves during slow sleep electrical status epilepticus during slow sleep 119 epilepsy with myoclonic absences 121 epilepsy with myoclonic astatic seizures 121 epileptic encephalopathy 122 epileptogenesis secondary 122 ethosuximide zarontin 123 etiology 124 evoked potentials 125 evolution of. Introduction myoclonic astatic epilepsy mae, or doose syndrome, is a genetically heterogenous rare childhood epilepsy syndrome characterized by the onset of myoclonic atonic or atonic seizures between the ages of 6 months and 6 years in a previously normally developing child doose et al. Treatment of myoclonicastatic epilepsy is often very difficult. Myoclonicastatic epilepsy epilepsy petit mal myoclonic. The epilepsy medicines that have been most successful are sodium valproate epilim, topiramate topamax, lamotrigine lamictal and occasionally clobazam frisium, ethosuximide zarontin or nitrazepam. Genetics plays an important role in this condition, and in some cases a family history of seizures can be found.
Click here to start a new topic please sign and date your posts by typing four tildes new to wikipedia. Simultaneous eegfmri recordings were performed in children with mae. Incidence and prevalence 20,000 to 45,000 children diagnosed with epilepsy annually as many as 325,000 american children between the ages of 5 and 14 years have active epilepsy some evidence suggests a decline in epilepsy incidence over the last few decades 4 etiology of epilepsy in. Doose syndrome, otherwise traditionally known as myoclonicastatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970.
Ilae 2017 classification of seizure types provides guidance on how to employ the. It is an uncommon childhood epilepsy that accounts for 12 out of 100 of all childhoodonset epilepsies. Doose syndrome, otherwise traditionally known as myoclonicastatic epilepsy, was first described as a unique epilepsy. Myoclonic astatic epilepsy was first clearly described as an independent epilepsy syndrome by dr hermann doose 4 in 1970. Myoclonic astatic epilepsy doose syndrome the epilepsy. Glucose transporter 1 deficiency as a treatable cause of. In 1989, the international league against epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed epilepsy with myoclonic atonic seizures. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset summary by carvill et al. A number of different antiepileptic medications may be efficacious, although phenobarbital, lamotrigine, vigabatrin, and carbamazepine may worsen the seizures in some cases. The ketogenic diet for epilepsy learn about the diet, the.
Myoclonic seizure an overview sciencedirect topics. Identifying the doose gene slc6a1 mutations in myoclonic. In the recent issue of the american journal of human genetics, we report on the first true gene for doose syndrome. Search genetic and rare diseases information center. Myoclonic astatic epilepsy valproic acid, levetiracetam, ketogenic diet benign myoclonic epilepsy valproic acid table 1. Myoclonic astatic epilepsy mae, also known as myoclonic atonic epilepsy or doose syndrome, is a generalized idiopathic epilepsy. Epilepsy with myoclonic atonic seizures emas was formerly known as myoclonic astatic epilepsy mae or doose syndrome. Please remove passport from wallet to read all 4 pages. Myoclonic epilepsy, myoclonicatonic seizures, myoclonicastatic epilepsy, doose syndrome, videotelemetry, childhood. The authors describe the history of study of myoclonic astatic epilepsy, its prevalence. Myoclonicastatic epilepsy is a generalized epilepsy syndrome with multiple seizure types, including myoclonic astatic, absences, tonicclonic, and eventually tonic seizures, appearing in a previously normal child between the ages of 18 and 60months, with a peak around 3years of age guerrini and aicardi, 2003.
In general, children are developmentally normal before the onset of epilepsy and organic brain abnormalities are absent. Severe myoclonic epilepsy of infancy dravet syndrome. In his original paper, doose reported 51 children with the now traditional clinical semiology and electroencephalographic pattern were described. Age specific incidence of epilepsy pediatric epilepsy. Myoclonic astatic epilepsy mae, also known as doose syndrome, is an epilepsy syndrome of early childhood usually characterized by difficult to control generalized seizures. Juvenile myoclonic epilepsy jme or janz syndrome, previously impulsive petit mal, is one of the most common generalized epilepsy syndromes of childhood. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonicclonic seizures. Severe paediatric epilepsy syndromes epilepsy society. Epilepsy with myoclonic atonic seizures emas epilepsy. Myoclonic astatic epilepsy mae also known as doose syndrome. Doose syndrome, otherwise traditionally known as myoclonic astatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970. National institute for health and clinical excellence nice. Benign childhood epilepsy with centrotemporal spikes bcects childhood absence epilepsy juvenile myoclonic epilepsy lennoxgastaut syndrome lgs dravet syndrome ds infantile spasms is myoclonic astatic epilepsy mae pediatric epilepsy syndromes gibbon f.