The general purpose of the present study was to analyze specific kinds of data from a large series of epileptic patients to focus the significance of the findings, particularly in relation to previously published results. [books.google.it]

Patient Description We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were [jhu.pure.elsevier.com]

Dravet syndrome (DS) is a variant of epileptic encephalopathy that presents in infancy with gradually varying seizure types. [neurologyindia.com]

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]

Four out of 5 patients (80%) presented with awake BRX (A-BRX)... [readbyqxmd.com]

The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. [dnatesting.uchicago.edu]

We identified 26 patients with Infantile Epileptic Encephalopathy (IEE) of unknown etiology despite extensive workup and without any specific epilepsy syndromic phenotypes. [journals.plos.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]

• Spike-and-Slow-Waves

   Inter-Ictal EEG  Initial -20% show normal BG with photoparoxysmal discharges of spikes/ polyspikes-slow waves.  Within 1 year, EEG - abnormal slow BG with frequent asymmetrical paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according [slideshare.net]

  EEG at that time showed generalized high amplitude multi-spike and slow waves. At age of 1 year and 7 months, LEV was substituted by VPA, and seizure frequency was reduced to 3 times per day. [bmcmedgenet.biomedcentral.com]

• Multifocal Spikes

  Diagnosis Hypsarrhythmia, the typical interictal EEG finding, consists of a disorganized pattern with asynchronous, very high amplitude slowing and frequent multifocal spike and sharp wave discharges. [intechopen.com]

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. Pediatric Neurology, 64, 87-91. [jhu.pure.elsevier.com]

Risk and treatment management includes, but is not limited to [6] : For ALDH7A1 related pyridoxine-dependent epilepsy and PNPO related pyridoxamine 5′-phosphate oxidase deficiency: Treatment Pyridoxine should be used For KCNQ2 related early infantile [swisscheckup.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]

This article reviews the various seizure types, etiologies, diagnostic modalities, and treatment options for neonates with seizures and seizure-like episodes. [neoreviews.aappublications.org]

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

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]

 Poor prognosis with occ. early death. 3.  Neonates.  Early myoclonic encephalopathy.  Ohtahara syndrome.  Infancy.  West syndrome.  Dravet syndrome.  Childhood.  Myoclonic astatic epilepsy.  Epileptic encephalopathy with CSWS including Landau [slideshare.net]

There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment and prognosis. [books.google.com]

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

This article reviews the various seizure types, etiologies, diagnostic modalities, and treatment options for neonates with seizures and seizure-like episodes. [neoreviews.aappublications.org]

The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. [dnatesting.uchicago.edu]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.com]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. PMID: 10519720 Trevathan, E, et al. The descriptive epidemiology of infantile spasms among Atlanta children. [invitae.com]

Relevant External Links for SLC13A5 Genetic Association Database (GAD) SLC13A5 Human Genome Epidemiology (HuGE) Navigator SLC13A5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC13A5 No data available for Genatlas for SLC13A5 Gene Human [genecards.org]

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

While these gene discoveries initially had no direct link to the more severe epileptic encephalopathies, they laid the general pathophysiological concept, such as the channelopathy concept of the human epilepsies [Steinlein, 2004], which eventually provided [karger.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]

Because several causes of seizures in newborns require rapid recognition and treatment to prevent further injury, early recognition is important. Seizures in newborns frequently have more subtle clinical manifestations than in older children. [neoreviews.aappublications.org]

However, the high cost of the genetic analysis has prevented the parents from going ahead with the test. At present, the child is on a regular follow-up. He has recently been started on ketogenic diet. [neurologyindia.com]

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]

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]