Zobrazeno 1 - 10
of 20
pro vyhledávání: '"O S Shilkina"'
Autor:
E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 14, Iss 3, Pp 254-266 (2022)
Background. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy with onset in adolescence and adulthood. During medical genetic counseling in probands with JME, aggravated epilepsy-related heredity is often de
Externí odkaz:
https://doaj.org/article/85f03e16fad04cdabd77f1f844b4a2e5
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 15, Iss 2 (2023)
Due to elevated frequency of autoimmune epilepsy cases, the issues related to reliable clinical and laboratory-instrumental criteria for establishing the disease etiology become relevant. Differentiated assessment of autoantibody markers allows to ch
Externí odkaz:
https://doaj.org/article/f3c69206f9824ba287bfe8f544ec3e48
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 11, Iss 4, Pp 61-67 (2019)
In recent years, the genetics of juvenile myoclonic epilepsy (JME) has been actively studied; the association of JME with the carriage of polymorphic allelic variants of the BRD2 (EJM3 locus) and GJD2 (EJM2 locus) genes has been established. Objectiv
Externí odkaz:
https://doaj.org/article/86afdaf43ba54047b038788bd8232555
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 0, Iss 0 (2020)
This article outlines recent findings on genetics of juvenile myoclonic epilepsy (JME), where JME occurrence is associated with polymorphic allelic variants in BRD2 gene (locus EJM3) and GJD2 gene (locus EJM2).Objective: To establish risk factors for
Externí odkaz:
https://doaj.org/article/b1755f53171e47b2b7783e491fc92125
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 10, Iss 1S, Pp 31-37 (2018)
The review presents an update on the electroencephalographic characteristics and neurophysiology of juvenile myoclonic epilepsy (JME) in Russia and foreign countries.Materials and methods. The authors have performed a literary search for the full-tex
Externí odkaz:
https://doaj.org/article/9aa7ac8f3b4741bbba9f81c9cece027d
Publikováno v:
Русский журнал детской неврологии, Vol 13, Iss 1, Pp 57-63 (2018)
Mutations of POLG gene can cause a variety of clinical manifestations, including autosomal recessive or autosomal dominant mitochondrial diseases. The article presents a clinical case demonstrating the difficulty of differential diagnosis of POLG-ass
Externí odkaz:
https://doaj.org/article/f732d9fd452940b2b7bb4099503d1923
Autor:
O. S. Shilkina, N. A. Schnaider
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 9, Iss 1S, Pp 26-31 (2017)
The article presents information on the definition of juvenile myoclonic epilepsy (JME) and current epidemiological data concerning its prevalence in Russia and foreign countries.Objective: to study the available publications on the epidemiological m
Externí odkaz:
https://doaj.org/article/8469266f69bf4facb2a2c8e63427bdd8
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 8, Iss 3, Pp 27-33 (2016)
Objective. The analysis of the frequency of occurrence of clinical phenotypes of JME among residents of the Siberian Federal District (Russia). Materials and Methods. 80 patients with JME underwent preliminary anamnestic and clinical selection using
Externí odkaz:
https://doaj.org/article/f1ef91b1c7604fb88e0f94b19e8879a8
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 8, Iss 2, Pp 20-36 (2016)
The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latt
Externí odkaz:
https://doaj.org/article/1265f48f6d0d4681a3c909baa2e30f43
Autor:
P. V. Moskaleva, N. A. Shnayder, D. V. Dmitrenko, O. S. Shilkina, N. G. Neznanov, R. F. Nasyrova
Publikováno v:
Neuroscience and Behavioral Physiology. 52:462-469