Diagnosis [ edit ] The diagnosis is based on the clinical presentation and on typical electroencephalographic patterns. [19] Treatment [ edit ] Treatment outlook is poor. [en.wikipedia.org]

No single cause has been identified, although in many cases structural brain damage is present. [2] Characteristics Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalopathy, with seizure onset occurring within the first [ipfs.io]

Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth. [orpha.net]

(Wednesday, May 29th 3:30-5:30 pm) ClinGen Posters and Presentations - ACMG 2019 Gene Disease Validity General Training Presentation Updated February 2018. [clinicalgenome.org]

Acronym EIEE18 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence. [intechopen.com]

• Leishmania Tropica

  Afshar A Aghaei, Y Rassi, I Sharifi, H Vatandoost, HR Mollaie, M.A Oshaghi, MR Abai and S Rafizadeh, First report on natural Leishmania infection of Phlebotomus sergenti due Leishmania tropica by high resolution melting curve method in South-eastern Iran [doi.org]

[…] plans and outcome of medication treatment. [sites.google.com]

[…] or how the length of treatment impacts the outcome. [dovepress.com]

Brand-new chapters in the drug and diet section cover perampanel, ezogabine, and lacosamide, while the existing chapters on major medical treatments have been comprehensively updated to reflect the latest trials and studies. [books.google.com]

There is an urgent need for novel treatments. Where effective therapies are available, such as epilepsy surgery for brain malformations, treatment can be life-changing. [minerva-access.unimelb.edu.au]

Treatments Although the disorder in incurable, much can be done to improve the lives not only of the children but also the families. [intechopen.com]

Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation. [intechopen.com]

The disease prognosis is very poor, with most affected children either dying or being severely neurologically impaired. [cags.org.ae]

Prognosis Prognosis is poor with death usually occurring in infancy (50% before age of 2). Survivors have severe psychomotor impairments with continuing seizures. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis The prognosis is related to the underlying disorder. The severity of developmental impairment varies with the type of epilepsy. Early infantile epileptic encephalopathy (Ohtahara syndrome) The prognosis is very poor. [emedicine.medscape.com]

The prognosis is severe. Early myoclonic encephalopathy and Ohtahara syndrome together are recognized as 2 of the epileptic encephalopathies seen in early infancy and characterized by suppression burst on electroencephalogram. [medlink.com]

Establishment of the etiology has important implications for prognosis and genetic counseling. [content.iospress.com]

Etiology No clear etiology is found in approximately 40% of cases ( Hrachovy, 2008 & Vigevano, 1992). [intechopen.com]

In this updated article, the authors review the clinical and neurophysiological data, management, and etiologic factors. [medlink.com]

Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities. [orpha.net]

The developmental prognosis partially depends on the etiology. When classified by etiology, normal development was described in 51% of cryptogenic cases versus only 6% of symptomatic cases. [emedicine.medscape.com]

Keywords epilepsy; infant; severe epilepsies of infancy; epidemiology; aetiologies; genetics; health economics [minerva-access.unimelb.edu.au]

From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals [books.google.com]

Summary Epidemiology Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth. [orpha.net]

[Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy. [malattierare.regione.veneto.it]

Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients. Pediatr Neurol. 1998 Jan. 18(1):46-50. [Medline]. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. [emedicine.medscape.com]

The possible pathophysiologic mechanisms underlying infantile spasms and the relation of this disorder to other childhood encephalopathies are discussed. [journals.lww.com]

In this research project we investigate the pathophysiological function of genetic point mutations of munc18-1 in EIEE. A knock-out mouse model lacking munc18-1 expression is used along with sophisticated viral gene transfer methods. [ouhsc.edu]

Pathophysiology The underlying mechanisms of these disorders are still poorly understood. [intechopen.com]

Pathophysiology The epileptic encephalopathies are a group of age-specific epilepsy syndromes of diverse etiologies that share the potential for causing significant cognitive impairment. [emedicine.medscape.com]

Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome. [malattierare.regione.veneto.it]

Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]

Prevention No information is available. Genetic counseling might be helpful. 6.6. [intechopen.com]

It is also unclear if an adverse neurodevelopmental outcome, occurring as a consequence of seizures, can be prevented by currently available treatment. [dovepress.com]

Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. Brain Dev. 2001;23(7):482-7.Ohtsuka Y, Kobayashi K, Ogino T, Oka E. Spasms in clusters in epilepsies other than typical West syndrome. [malattierare.regione.veneto.it]