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Early Infantile Epileptic Encephalopathy 28

Undetermined EOEE


Presentation

  • Optic atrophy may be present and the ERG is abnormal in some individuals.[disorders.eyes.arizona.edu]
  • Acronym EIEE28 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The classification of patients under various epileptic syndromes is presented in Tables II and III. Eight patients in group A could not be classified under any defined epileptic syndrome presenting during this age.[indianpediatrics.net]
  • 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]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
Retinal Damage
  • Light-induced retinal damage involves tyrosine 33 phosphorylation, mitochondrial and nucleartranslocation of WW domain-containing oxidoreductase in vivo . Neuroscience. 2005; 130 (2):397-407 30. Hong Q, Hsu LJ, Schultz L. et al .[jcancer.org]
Hyperreflexia
  • Spasticity and hyperreflexia are often present but some newborn infants are hypotonic. MRI imaging reveals cortical atrophy with hippocampal hypoplasia and a hypoplastic corpus callosum. Progressive microcephaly has been described.[disorders.eyes.arizona.edu]
  • Neuronal loss in central nervous system Gliosis Abnormality of the eye Vomiting Milia Failure to thrive Flexion contracture Cerebral hypomyelination Excessive salivation Hemiparesis Paroxysmal involuntary eye movements Hypoglycorrhachia Generalized hyperreflexia[mendelian.co]

Workup

  • No definite etiology could be established for either case despite an extensive metabolic workup. CT performed within three months of age in both cases was normal. Other workers have also often been unable to find the etiology for EME.[indianpediatrics.net]

Treatment

  • Treatment Treatment Options: No treatment is known for this condition.[disorders.eyes.arizona.edu]
  • Gidal Lippincott Williams & Wilkins, ٢٣‏/١١‏/٢٠١٠ - 1095 من الصفحات In one convenient source, Wyllie's Treatment of Epilepsy: Principles and Practice provides a broad, detailed, and cohesive overview of seizure disorders and contemporary treatment options[books.google.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 no known treatment. A few individuals have lived up to two years of age but most die within weeks or a few months. Additional Information[disorders.eyes.arizona.edu]

Prognosis

  • Format 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]
  • الصفحة 99 - Prognosis of epilepsy: a review and further analysis of the first nine years of the British National General Practice Study of Epilepsy, a prospective populationbased study. ‏[books.google.com]
  • Diagnosis and Prognosis: Infants may appear physically normal at birth but the occurrence of seizures and lack of normal neurological development should call attention to this condition within weeks.[disorders.eyes.arizona.edu]
  • 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]

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 EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities.[orpha.net]
  • In thirteeen (35.1%) cases no definite underlying etiology could be established. Birth asphyxia and central nervous system infections accounted for a majority of cases with known etiology.[indianpediatrics.net]
  • Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009 ; 50 Suppl 5 : 49 – 51. 14. Carranza Rojo, D, Hamiwka, L, McMahon, JM, et al.[cambridge.org]

Epidemiology

  • 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]
  • Epidemiology of viral hepatitis and hepatocellular carcinoma . Gastroenterology. 2012; 142 (6):1264-73 3. Torre LA, Bray F, Siegel RL. et al . Global cancer statistics, 2012 . CA Cancer J Clin. 2015; 65 (2):87-108 4. Gluer AM, Cocco N, Laurence JM.[jcancer.org]
Sex distribution
Age distribution

Pathophysiology

  • "Our study demonstrates the importance of membrane trafficking in neuronal development and it provides a new pathophysiological mechanism for this disease type.[medicalxpress.com]

Prevention

  • For long term storage store at -20C in small aliquots to prevent freeze-thaw cycles. Preservative: 0.02% Sodium Azide and 50% glycerol Target Post-Translational Modification: Phospho-Tyr33[avivasysbio.com]
  • This study confirms that WWOX is a tumor suppressor gene and is highly effective in preventing growth of lung cancer xenografts , whether introduced through viral infection or by induction of a silent WWOX transgene [7] .[wikigenes.org]
  • PMID 11719429 WWOX gene restoration prevents lung cancer growth in vitro and in vivo.[atlasgeneticsoncology.org]

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