Angelman Syndrome. Part 1 (Etiology and Pathogenesis)
Journal Title: Здоров`я дитини - Year 2015, Vol 5, Issue 65
Abstract
The paper presents the current understanding of the mechanisms of genetic changes in Angelman syndrome. This article contains the data on the prevalence and the risk of inheritance of different genetic defects in patients with Angelman syndrome. Pathogenetic basis for the development of the main clinical manifestations of Angelman syndrome: seizures, cognitive deficit, behavioral disorders, imbalance in wakefulness and sleep hours, trophic disorders — are described. It is shown that changes in Arc gene expression are associated not only with Angelman syndrome but also with some other diseases.
Authors and Affiliations
O. Ye. Abaturov, L. L. Petrenko, Ye. L. Krivusha
Keywords
Related Articles
- EP ID EP219202
- DOI -
- Views 68
- Downloads 0
Nosospecific features of redox processes in acute respiratory viral infections and chronic inflammatory diseases of the respiratory system
The review of the literature presents current data on the specific features of oxidative stress and the functional activity of the antioxidant system in acute respiratory viral infections and chronic inflammatory diseas...
The Problems of Current Vaccinology
The article describes the possible causes of the unpredictable reactions of child’s organism on vaccination and development of severe postvaccinal complications: epidemiological (uncontrolled group of children born from...
The content of antimicrobial peptides in young children with acute bronchitis depending on the etiological factor
We have investigated the level of antimicrobial peptides in the blood serum of 46 young children with acute bronchitis depending on the etiological factor. It was found that the development of severe bronchitis in 74.3 %...
Evaluating the efficacy of probiotics in atopic dermatitis on the background of food allergy in children
Background. According to the European Academy of Allergy and Clinical Immunology, about 17.3 % of European population has food allergies throughout life. At the same time, an increased concentration of specific immunoglo...
A Rational Approach to the Treatment of Acute Tonsillopharyngitis in Children
In this paper, we consider a variant of the local anti-inflammatory therapy in acute tonsillopharyngitis in children with anti-inflammatory, analgesic effect, both as monotherapy and in combination with antibacterial age...