Zobrazeno 1 - 10
of 193
pro vyhledávání: '"A N, Zavadenko"'
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 16, Iss 2, Pp 120-129 (2024)
PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal dominant genetic syndrome characterized by developmental delay, intellectual disability, dysmorphic features, and rare seizures. The article describes a
Externí odkaz:
https://doaj.org/article/b0cde915893f4499a8a49a6561191d0c
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 16, Iss 1, Pp 45-53 (2024)
In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy with or without epilepsy. Loss-of-function variants in nucl
Externí odkaz:
https://doaj.org/article/cac54c1c1294468e89ad3e4d24507d9c
Autor:
T. V. Kozhanova, S. S. Zhilina, L. M. Sushko, E. G. Lukyanova, K. V. Osipova, A. I. Krapivkin, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 15, Iss 4, Pp 339-347 (2023)
Focal epilepsy is the most common type of epilepsy accounting for 60–70% of all cases of this pathology. We present two familial cases of focal epilepsy associated with a nucleotide sequence variant in DEPDC5 gene. Clinical and ancestry examination
Externí odkaz:
https://doaj.org/article/d6edefd7780b4510ab3b40de97b4a2ea
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 15, Iss 3, Pp 104-113 (2023)
The review presents the results of clinical studies of the efficacy and safety of Tenoten and Tenoten children’s in the treatment of anxiety, neurotic, stress-related and somatoform disorders and adjustment disorders. Technologically processed anti
Externí odkaz:
https://doaj.org/article/026bb06c89514819a7bbf8a387e1a749
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Lukyanova, E. S. Bolshakova, S. O. Ayvazyan, K. V. Osipova, P. A. Vlasov, A. I. Krapivkin, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 15, Iss 3 (2023)
The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. The heterozygous variants of the nucleotide sequence in SPTAN1 gene were detected by whole exome sequencing. Mutations in SPTAN1 gene hav
Externí odkaz:
https://doaj.org/article/b96a918aa01c4202a4d125aba0a2f681
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 14, Iss 2, Pp 214-220 (2022)
The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor development delay is presented. The proband with Freeman–Sheldon syndrome had no mutations
Externí odkaz:
https://doaj.org/article/d61d98af154d4c0ca2e75248fdc73c27
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Luk’yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 13, Iss 1, Pp 44-50 (2021)
We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutatio
Externí odkaz:
https://doaj.org/article/20cde55ee1614d86af7a31769b6e9d00
Autor:
A. A. Kholin, N. N. Zavadenko, L. M. Kolpakchi, I. D. Fedonyuk, A. S. Papikyan, А. N. Zavadenko, E. S. Ilina
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 11, Iss 2, Pp 164-174 (2019)
Objective. Study the clinical and neurophysiological evolution of early infantile epileptic encephalopathy type 4 (EIEE4) caused by a STXBP1 gene mutation.Material and methods. During 2016-2019, we conducted dynamic observation and treatment of a gir
Externí odkaz:
https://doaj.org/article/9693fc1805a84005a893f6009843e1da
Autor:
M. V. Polyanskaya, A. A. Demushkina, F. A. Kostylev, I. G. Vasilyev, V. A. Chadaev, N. N. Zavadenko, A. A. Alikhanov
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 12, Iss 2, Pp 105-116 (2020)
Aim. To approve of diagnostic effectiveness of SWAN (SWI) images in revealing of calcium containing epileptogenic substrates in children with resistant focal epilepsy.Materials and methods. The results of MRI in children with refractory focal epileps
Externí odkaz:
https://doaj.org/article/4d09457d5fbd45e5bd05a721f120ec58
Autor:
M. V. Polyanskaya, A. A. Demushkina, F. A. Kostylev, F. A. Kurbanova, I. G. Vasilyev, V. A. Chadaev, N. N. Zavadenko, A. A. Alikhanov
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 12, Iss 1, Pp 36-50 (2020)
Introduction. Cortical dysplasias (CDs) encompass a wide variety of disorders that in most cases lead to epilepsy, especially in infants and young children. MRI diagnosis of CDs is a major part of presurgical examination of pediatric patients with re
Externí odkaz:
https://doaj.org/article/875ae6a8133f4d6996f4a4e0cbe30b9d