Email this article HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES
- Authors: Dadali E.L.1, Sharkov A.A.2, Sharkova I.V.1, Kanivets I.V.3, Konovalov F.A.3, Akimova I.A.3
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Affiliations:
- Research Center of Medical Genetics, Moscow
- N.I. Pirogov Russian National Research Medical University. Acad. Yu.E. Veltishchev Research Clinical Institute of Pediatrics, Moscow
- Laboratory of Molecular Pathology “Genomed”, Moscow
- Issue: Vol 11, No 2 (2016)
- Pages: 33-41
- Section: AUTHENTIC ARTICLES
- Published: 24.08.2016
- URL: https://rjdn.abvpress.ru/jour/article/view/151
- DOI: https://doi.org/10.17650/2073-8803-2016-11-2-33-41
- ID: 151
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Abstract
The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations. The paper sets forth the possibilities and limitations of using current methods for the molecular genetic diagnosis of idiopathic and symptomatic epilepsies. The most effective and less expensive technique of molecular genetic analysis is shown to be an exome sequencing test using the panels of genes responsible for the occurrence of diseases with simi1ar clinical symptoms. The paper also presents the structure of the panel of genes responsible for the occurrence of monogenic epilepsies, which has been designed at the Genomed Clinic and includes 448 genetic variants. It also determines the significance of using a chromosomal microarray analysis to diagnose both chromosomal and monogenic diseases accompanied by convulsions.
About the authors
E. L. Dadali
Research Center of Medical Genetics, Moscow
Email: fake@neicon.ru
1 Moskvorech’e St., Moscow, 115478 Russian Federation
A. A. Sharkov
N.I. Pirogov Russian National Research Medical University. Acad. Yu.E. Veltishchev Research Clinical Institute of Pediatrics, Moscow
Email: fake@neicon.ru
2 Taldomskaya St., Moscow, 125412 Russian Federation
I. V. Sharkova
Research Center of Medical Genetics, Moscow
Email: fake@neicon.ru
1 Moskvorech’e St., Moscow, 115478 Russian Federation
I. V. Kanivets
Laboratory of Molecular Pathology “Genomed”, Moscow
Author for correspondence.
Email: dr.kanivets@genomed.ru
8 Build. 5 Podol’skoye Shosse, Moscow, 115093 Russian Federation
F. A. Konovalov
Laboratory of Molecular Pathology “Genomed”, Moscow
Email: fake@neicon.ru
8 Build. 5 Podol’skoye Shosse, Moscow, 115093 Russian Federation
I. A. Akimova
Laboratory of Molecular Pathology “Genomed”, Moscow
Email: fake@neicon.ru
8 Build. 5 Podol’skoye Shosse, Moscow, 115093 Russian Federation
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