Zobrazeno 1 - 10
of 49
pro vyhledávání: '"A. S. Zhilina"'
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
Autor:
Anna G. Mikheeva, Mariya P. Topuzova, Valeriya A. Malko, Ekaterina S. Zhilina, Arina A. Mikhailova, Daria I. Lagutina, Tatiana L. Karonova, Tatyana M. Alekseeva
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 17, Iss 4, Pp 17-27 (2023)
Introduction. The COVID-19 pandemic has led to a high prevalence of post-COVID-19 syndrome (PCS), with mood disorders being the most common manifestations. Objective: To study the prevalence of PCS-associated mood disorders and their features.
Externí odkaz:
https://doaj.org/article/2a10dbb1a76e4768b2b2251fae949e25
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. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, I. V. Kanivets, V. S. Suchorukov, P. L. Anufriev, T. I. Baranich, A. A. Kozina, A. G. Prityko
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 3, Pp 51-63 (2021)
Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscula
Externí odkaz:
https://doaj.org/article/01099aa7c969436698e9e63a4c653882
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:
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 12, Iss 1, Pp 59-66 (2020)
Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation. We present a rare
Externí odkaz:
https://doaj.org/article/05c85c96985147bc90352ef32e394e61
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 11, Iss 4, Pp 379-387 (2020)
Introduction. Epilepsy is a neurological disorder characterized by periodic seizure attacks. Around 70–80% of epilepsy cases have a hereditary component.Aim: to identify the genetic factors of pharmacoresistant epilepsy in children.Materials and me
Externí odkaz:
https://doaj.org/article/dc9e5eb4687d4dddb431b70fa74c9dc6