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

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]

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]

Part of patients with SCN8A mutations presented only mental retardation without epilepsy [ 11 ]. [bmcmedgenet.biomedcentral.com]

• Inflammation

  ALG8-CDG ALG9-CDG ATP13A2-related juvenile neuronal ceroid lipofuscinosis Abetalipoproteinemia Aceruloplasminemia Action myoclonus-renal failure syndrome Acute encephalopathy with biphasic seizures and late reduced diffusion Acute encephalopathy with inflammation-mediated [se-atlas.de]

  Berman, Tong-Jun Lin and Dat Quoc Tran, Syntaxin Binding Protein 1 Is Not Required for Allergic Inflammation via IgE-Mediated Mast Cell Activation, PLoS ONE, 8, 3, (e58560), (2013). Lily C. [doi.org]

• Rigor

  Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

• Psychomotor Retardation

  Five of them demonstrated mild or severe psychomotor retardation, whereas the other one was normal in development and intelligence. [bmcmedgenet.biomedcentral.com]

  OS thought to be a progressive, neuro-degenerative disorder with increasing frequency of seizures and with severe retardation of psychomotor development and learning difficulties ( Miller, 1998 ). [intechopen.com]

  1195 TTC19 Mitochondrial complex III deficiency, nuclear type 2 AR 13 10 UBA5 * Epileptic encephalopathy, early infantile, 44, Spinocerebellar ataxia, autosomal recessive 24 AR 16 15 UBE3A * Angelman syndrome AD 176 202 UNC80 Hypotonia, infantile, with psychomotor [blueprintgenetics.com]

  retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebelloparenchymal disorder type 3 Autosomal recessive [se-atlas.de]

  [Three cases of Costello syndrome presenting with intractable epilepsy and profound psychomotor retardation/regression]. No To Hattatsu. 2001;33(5):430-5.Hayashi Y, Hanada K, Horiuchi I, Morooka M, Yamatogi Y. [malattierare.regione.veneto.it]

• Behavior Disorder

  Identification of pathogenic or likely pathogenic variants in dominant disorders or their combinations in different alleles in recessive disorders are considered molecular confirmation of the clinical diagnosis. [blueprintgenetics.com]

  Identifiable factors that may influence the course and degree of cognitive and behavioral impairment in these disorders include the following: Underlying etiology Age of onset of epilepsy Seizure frequency and severity Interictal epileptiform activity [emedicine.medscape.com]

  […] focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral [aruplab.com]

• Excitement

  Therefore abnormal synaptic communication is possible in spite of maintained excitability. [ouhsc.edu]

  Recommend to your librarian Hyperpolarization-activated, cyclic nucleotide-gated (HCN) channels contribute to cationic Ih current in neurons and regulate the excitability of neuronal networks. [f1000.com]

  Uddin M, et al. (2017) No ASD, motor delay 31 Recent Recommendation Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. [gene.sfari.org]

  Keywords SCN8A Epileptic encephalopathy Family cases Background Voltage-gated sodium channels (VGSCs) play a critical role in controlling neuronal excitability. VGSCs contain one pore-forming α-subunit and one or two β subunits. [bmcmedgenet.biomedcentral.com]

  How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. Brain Dev. 2001;23(7):533-8.Hattori H, Yamano T, Tsutada T, Tsuyuguchi N, Kawawaki H, Shimogawara M. [malattierare.regione.veneto.it]

• Global Developmental Delay

  Learn more Other less relevant matches: Top 5 symptoms//phenotypes associated to Muscular hypotonia and EEG abnormality Symptoms // Phenotype % cases Seizures Very Common - Between 80% and 100% cases Global developmental delay Common - Between 50% and [mendelian.co]

  All surviving children have global developmental delays. Some children may progress to West syndrome and Lennox-Gastaut syndrome. These 3 disorders are considered to be on a spectrum by some authors. [emedicine.medscape.com]

  Mercimek-Mahmutoglu et al. 48, conducted a retrospective cohort study of 110 patients with intractable epilepsy, global developmental delay, and cognitive dysfunction, Detection rate by targeted next-generation sequencing was 12.7% and SCN1A was the most [nature.com]

  Tekgul et al studied only full-term infants and found post-neonatal epilepsy in 35.7% of infants with seizures and global developmental delay in 50.8%. 16 In our own cohort from the Department of Neonatology in Ljubljana, Slovenia, we found that 36 of [dovepress.com]

• Akinesia

  Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Journal of medical genetics, jmedgenet-2020-106901. [igenomix.es]

  […] aphasia Progressive supranuclear palsy Progressive supranuclear palsy-corticobasal syndrome Progressive supranuclear palsy-parkinsonism syndrome Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Progressive supranuclear palsy-pure akinesia [se-atlas.de]

• Apathy

  Seizures are often accompanied by other signs, such as apathy, hypotonia or hypertonia, absence of the Moro reflex, and bulbar signs, often presenting as difficulties in sucking and swallowing. 60 Although hypoxic-ischemic brain injury is often the etiologic [dovepress.com]

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]

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]

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

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

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

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]

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]

Etiologic considerations Identification of the underlying etiology is also an important issue when considering appropriate management of neonatal seizures. [dovepress.com]

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]

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

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]