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Early Infantile Epileptic Encephalopathy Type 26

EIEE26


Presentation

  • 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]
  • When seizures present in infancy, there are a number of potential causes that may need to be excluded before genetic testing is pursued. This often depends on the presentation and other clinical factors.[kcnq2cure.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]
  • I wonder what role non-coding RNAs play in the cases presented by Irimia et al., which is not touched upon.[epilepsygenetics.net]
  • Acronym EIEE26 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Hypoxemia
  • Studies using nuclear magnetic resonance spectroscopy suggest that neonatal seizures do not determine metabolic changes and/or cerebral hypoperfusion unless significant hypoxemia or severe lactic acidosis is present().[jped.com.br]
Hunting
  • Jacobs S, Hunt R, Tarnow-Mordi W, et al. Cooling for newborns with hypoxic-ischaemic encephalopathy. Cochrane Database Syst Rev. 2007;4:CD003311. 81. Azzopardi D, Brocklehurst P, Edwards D, et al. The TOBY study.[dovepress.com]
Seizure
  • […] presenting as tonic seizures (a generalized seizure involving a sudden stiffening of the limbs). [4] Other seizure types that may occur include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures.[en.wikipedia.org]
  • […] in infancy Multiple seizures daily at onset Seizure frequency decreases during early childhood Most patients become seizure-free by age 3 or 4 years Variable severity of seizures seen in family members and can be inherited Mutations may also occur de[kcnq2cure.org]
  • Generally, patients had seizure onset within 6 months after birth [ 9 ]. The seizure semiology was variable, including focal seizures, clonic seizures, tonic-clonic seizures, epileptic spasms, myoclonic and absence seizures, etc. [ 9 , 12 ].[bmcmedgenet.biomedcentral.com]
  • This new classification, shown in Table 1, is still controversial since it groups seizures into neonatal epileptic seizures, and non-epileptic seizures that are characterized by primitive motor patterns of the cerebral and medullar trunk(,).[jped.com.br]
  • About 30% of patients develops other seizure types, such as hemiconvulsions, motor seizures or generalized tonic-clonic seizures 42.[centogene.com]
Poor or Absent Speech
  • EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia.[uniprot.org]
  • EIEE26 patients CC manifest multiple types of seizures, delayed psychomotor CC development, poor or absent speech, hypotonia, hypsarrhythmia. CC {ECO:0000269 PubMed:25164438, ECO:0000269 PubMed:26477325, CC ECO:0000269 PubMed:26503721}.[myhits.isb-sib.ch]
Nystagmus
  • Tonic seizure started clinically with a scream (vertical arrow) and episodic nystagmus (oblique arrows shows EM artefacts).[slideshare.net]
Hyperreflexia
  • Three obligate female carriers had hyperreflexia and the matriarch developed progressive spastic ataxia at age 49 years.[bio2rdf.org]

Workup

  • 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]

Treatment

  • (Show Context) 3 Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia - Komaki, Sugai, et al. - 2001 (Show Context) 3 Practice parameter: medical treatment of infantile spasms.[citeseerx.ist.psu.edu]
  • Treatment The main treatments used are corticosteroids or vigabatrin (Sabril). Nitrazepam and sodium valproate (Epilim) may also be used. There are different types of steroid that can be used.[epilepsy.org.uk]
  • […] 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]

Prognosis

  • Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation.[intechopen.com]
  • Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology().[jped.com.br]
  • 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]
  • Definition A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis.[uniprot.org]

Etiology

  • The etiology or associated disorders involve a wide series of neonatal diseases and metabolic disorders. Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology().[jped.com.br]
  • 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]
  • Etiologic considerations Identification of the underlying etiology is also an important issue when considering appropriate management of neonatal seizures.[dovepress.com]

Epidemiology

  • Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments.[books.google.com]
  • 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 PCDH19 Genetic Association Database (GAD) PCDH19 Human Genome Epidemiology (HuGE) Navigator PCDH19 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCDH19 No data available for Genatlas for PCDH19 Gene Epilepsy[genecards.org]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The underlying mechanisms of these disorders are still poorly understood.[intechopen.com]
  • Epilepsia 2010;51(4):699-702 Interesting paper giving some insight intothe pathophysiology of suppression-Burstpattern.20. Kato M, Saitoh S, Kamei A, et al.[docslide.com.br]
  • 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]
  • Moreover, emphasis on pathophysiology reflects the increasing importance of personalized therapy in patients with epileptic encephalopathy.[thieme-connect.com]

Prevention

  • Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages.[docksci.com]
  • However, currently, developed countries mainly use less reactogenic acellular pertussis vaccines. 26 Moreover, cancellation of vaccination increases the risk of a vaccine-preventable disease (eg, pertussis, measles).[pediatrics.aappublications.org]
  • The authors advised early and intensive monitoring during steroid therapy to prevent ocular damage and visual impairment. clinical synopsis ...linical-synopsis] Clinical synopsis for omim 308350 [omim_resource:308350_cs] genotype/phenotype...ype-correlations[bio2rdf.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]

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