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| Issue | Title | |
| Vol 10, No 3 (2018) | Sudden unexpected death in genetic epileptic encephalopathies: a role of neurocardiac genes | Abstract similar documents |
| E. D. Belousova, M. A. Shkolnikova | ||
| "... encephalopathies (EE), partly because those syndromes are associated with mutations in the “neurocardiac” genes ..." | ||
| Vol 12, No 4 (2020) | Features of brain electrical activity in adult patients with POLG-related disorders | Abstract similar documents |
| P. A. Fedin, E. P. Nuzhnyi, T. Yu. Noskova, Yu. A. Seliverstov, S. A. Klyushnikov, T. D. Krylova, P. G. Tsygankova, E. Yu. Zakharova, S. N. Illarioshkin | ||
| "... with mutations in the POLG gene. Nevertheless, brain electrical activity features of POLG-related disorders ..." | ||
| Vol 7, No 2 (2015) | NEUROLOGICAL PAROXYSMAL DISORDERS IN CHILDREN WITH HYPOGLYCEMIA IN CONGENITAL HYPERINSULINISM: POLYMORPHISM OF CLINICAL IMPLICATIONS | Abstract similar documents |
| I. O. Shchederkina, M. A. Melikyan, A. N. Zavadenko, E. V. Kozlova, N. N. Zavadenko | ||
| "... . Children with ABCC8 gene mutations have more complicated for CHI and more prominent developmental delay. ..." | ||
| Vol 17, No 2 (2025) | A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in DOCK11 gene | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhylina, T. I. Meshcheryakova, A. A. Abramov, M. M. Abidova, T. S. Kaminskaya, A. I. Krapivkin, N. N. Zavadenko | ||
| "... encephalitis in a boy with a hemizygous variant in DOCK11 gene. DOCK11 deficiency is a new X-linked ..." | ||
| Vol 14, No 3 (2022) | Whole-exome sequencing of patients with juvenile myoclonic epilepsy | Abstract similar documents |
| E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko | ||
| "... pathological phenotype with one or another pathogenic variant in a number of genes. Objective: to analyze ..." | ||
| Vol 11, No 4 (2019) | Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation | Abstract similar documents |
| A. A. Kholin, I. D. Fedonyuk, O. P. Dovelman, N. N. Zavadenko, T. V. Kozhanova, E. A. Kholina, G. Sh. Khondkarian, E. S. Il`ina | ||
| "... epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene. Material and methods ..." | ||
| Vol 11, No 2 (2019) | Early infantile epileptic encephalopathy type 4: clinical, neurophysiological and therapeutic aspects | Abstract similar documents |
| A. A. Kholin, N. N. Zavadenko, L. M. Kolpakchi, I. D. Fedonyuk, A. S. Papikyan, А. N. Zavadenko, E. S. Ilina | ||
| "... encephalopathy type 4 (EIEE4) caused by a STXBP1 gene mutation. Material and methods. During 2016-2019, we ..." | ||
| Vol 13, No 2 (2021) | Early infantile epileptic encephalopathy type 54: clinical and neurophysiological aspects | Abstract similar documents |
| D. V. I, V. A. Aysina | ||
| "... ) type 54 due to mutated HNRNPU gene presumably suffering from genetic generalized epilepsy and impaired ..." | ||
| Vol 15, No 4 (2023) | DEPDC5-related familial focal epilepsy | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, L. M. Sushko, E. G. Lukyanova, K. V. Osipova, A. I. Krapivkin, N. N. Zavadenko | ||
| "... in DEPDC5 gene. Clinical and ancestry examination was performed by using instrumental (magnetic resonance ..." | ||
| Vol 16, No 1 (2024) | SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome | Abstract similar documents |
| 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 | ||
| "... In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing ..." | ||
| Vol 16, No 2 (2024) | Atypical course of severe myoclonic epilepsy of infancy (Dravet syndrome) | Abstract PDF (Eng) similar documents |
| B. A. Abusueva, M. D. Shanavazova, М. A. Askevova, V. S. Khalilov, M. Yu. Bobylova | ||
| "... A clinical observation of a patient with Dravet syndrome caused by SCN1A gene mutation ..." | ||
| Vol 16, No 2 (2024) | A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome) | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko | ||
| "... 1 gene (rs398123009, chr11:6621120, c.607C>T, p.Arg203Trp). Knowing PACS1 syndrome molecular ..." | ||
| Vol 15, No 3 (2023) | SPTAN1-associated developmental and epileptic encephalopathy | Abstract similar documents |
| 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 | ||
| "... developmental delay. The heterozygous variants of the nucleotide sequence in SPTAN1 gene were detected by whole ..." | ||
| Vol 17, No 1 (2025) | Hypotheses of development and strategies for overcoming drug resistance in epilepsy. Рart II: Overcoming strategies | Abstract similar documents |
| A. M. Yakimov, E. E. Timechko, A. I. Paramonova, A. A. Vasilieva, F. K. Rybachenko, A. D. Rybachenko, D. V. Dmitrenko | ||
| Vol 17, No 2 (2025) | Epilepsy, epileptiform discharges and features of brain magnetic resonance imaging in merosin-deficient muscular dystrophy | Abstract similar documents |
| A. V. Monakhova, E. D. Belousova, Z. K. Gorchkhanova | ||
| "... the emergence of biallelic variants in the LAMA2 gene and manifested by progressive muscle weakness, diffuse ..." | ||
| Vol 8, No 2 (2016) | CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY | Abstract similar documents |
| N. A. Shnayder, O. S. Shilkina, K. V. Petrov, I. A. Chernykh, A. V. Diuzhakova | ||
| "... genes are responsible. The authors presented the review of results modern clinical and genetic studies ..." | ||
| Vol 11, No 1 (2019) | Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko | ||
| "... ; video electroencephalography, and brain MRI. Using the targeted exome sequencing of genes associated ..." | ||
| Vol 5, No 3 (2013) | CLINICAL SIGNIFICANCE OF STUDYING GENETIC POLYMORPHISM OF THE Р450 CYP2C9 AND CYP2C19 DETOXIFYING ENZYME GENES IN EPILEPTIC CHILDREN | Abstract similar documents |
| O. V. Guzeva, E. N. Imyanitov | ||
| "... Abstract: study of genetic polymorphism of the P450 CYP2C9 and CYP2C19 detoxifying enzyme genes ..." | ||
| Vol 16, No 2 (2024) | De Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case description | Abstract similar documents |
| N. I. Shova, V. A. Mikhailov, G. D. Romanyugo | ||
| 1 - 19 of 19 Items | ||
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