Order results by:
| Issue | Title | |
| Vol 12, No 1 (2020) | Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko | ||
| "... for patients with Helsmoortel-van der Aa syndrome (OMIM: # 615873). Mutations in the ADNP gene are the genetic ..." | ||
| Vol 15, No 1 (2023) | Epilepsy – a disease of geniuses? | Abstract similar documents |
| A. Yu. Ulitin, A. V. Vasilenko, I. A. Sokolov, M. A. Bulaeva, S. S. Kolosov, S. A. Turanov, G. A. Ulitin, A. A. Vinogradova | ||
| "... , Van Gogh, Dostoevsky, Leo Tolstoy, and many others. The article is aimed to confirm on historical ..." | ||
| Vol 3, No 2 (2011) | ANALYSIS OF THE SERT AND TPH2 GENES POLYMORPHISM RELATIONSHIP WITH SIDE EFFECTS DURING TOPIRAMATE THERAPY TAKING INTO ACCOUNT GENDER FEATURES | Abstract similar documents |
| A. S. Chukanova, M. A. Tushkanov, V. I. Barsky, I. K. Grazhdan, E. V. Cricova, M. G. Aksenova, S. G. Burd, E. I. Gusev | ||
| "... We examined the clinical and genetic evaluation of SERT and TPH2 genes SNP polymorphisms role ..." | ||
| 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 15, No 4 (2023) | Clinical features of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation | Abstract PDF (Eng) similar documents |
| А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina | ||
| "... Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene ..." | ||
| 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 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 13, No 1 (2021) | Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene | Abstract similar documents |
| 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 | ||
| "... in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been described in patients ..." | ||
| 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 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 4 (2024) | DEPDC5 mutations in familial epilepsy syndrome: genetic insights and therapeutic approaches | Abstract PDF (Eng) similar documents |
| M. K.C. Diallo, S. Mukesh, L. Kapil, R. Singla, D. Tar, S. N. Tammineedi, E. Singer, H. Chhayani, K. Arumaithurai, U. K. Patel, R. Arora | ||
| "... epilepsy syndrome is a group of epilepsy disorders caused by mutations in DEPDC5 gene, which is a part ..." | ||
| 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 | ||
| Vol 14, No 1 (2022) | The effect of benign epileptiform discharges of childhood on cognitive function, behavior and speech | Abstract similar documents |
| E. A. Morozova, M. V. Belousova, D. V. Morozov, M. A. Utkuzova | ||
| Vol 11, No 2 (2019) | Restrictions on the use of valproate in female patients of reproductive age: the updated recommendations based on recent clinical data | Abstract similar documents |
| G. N. Avakyan, D. V. Blinov, G. G. Avakyan, E. S. Akarachkova, S. G. Burd, P. N. Vlasov, K. V. Voronkova, V. I. Guzeva, I. A. Zhidkova, E. A. Katunina, D. I. Korabelnikov, A. V. Lebedeva, L. V. Lipatova, E. A. Morozova, O. M. Oleinikova, I. G. Rudakova | ||
| "... in a fetus that may result in attention-deficit hyperactivity syndrome (ADHD), autism spectrum disorder (ASD ..." | ||
| Vol 15, No 3 (2023) | Variable clinic-EEG trajectories in male patients with PCDH19 clustering epilepsy | Abstract PDF (Eng) similar documents |
| D. V. Dmitrenko, A. А. Sharkov, E. А. Domoratskaya, A. А. Usoltseva, I. V. Volkov, D. V. Pyankov | ||
| "... Background. The association between the protocadherin-19 (PCDH19) gene and epilepsy suggests ..." | ||
| Vol 13, No 3 (2021) | Regulatory restrictions on the use of valproate in girls and women of childbearing potential: status update | Abstract PDF (Eng) similar documents |
| D. V. Blinov, E. S. Akarachkova, V. I. Tsibizova, D. I. Korabelnikov, N. V. Pavlova, I. V. Kukes, D. A. Petrenko | ||
| Vol 17, No 1 (2025) | Impact of CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms on antiepileptic drug safety and efficacy | Abstract similar documents |
| N. A. Galankin, Z. G. Tadtaeva, I. S. Sardaryan, A. N. Galustyan, O. A. Gromova | ||
| "... A review of literature data is presented on polymorphic variants of genes responsible ..." | ||
| Vol 9, No 3 (2017) | CONNECTION BETWEEN EPILEPSY AND AUTISM SPECTRUM DISORDER | Abstract similar documents |
| N. N. Maslova, V. A. Skorobogatova, N. V. Yur’eva, N. E. Maslov | ||
| "... The role of epilepsy in developing autism spectrum disorders (ASD) is not well understood ..." | ||
| Vol 9, No 4 (2017) | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY | Abstract similar documents |
| A. G. Malov | ||
| "... with a suspected nuclear DNA mutation – the epilepsyassociated gene panel exome sequencing of nuclear DNA ..." | ||
| Vol 15, No 1 (2023) | Opportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseases | Abstract similar documents |
| T. V. Kozhanova | ||
| "... in identifying genes associated with the pathology of developing nervous system. The review is aimed ..." | ||
| Vol 15, No 4 (2023) | Etiopathogenetic mechanisms of epilepsy and comparative characteristics of audiogenic epilepsy experimental models | Abstract PDF (Eng) similar documents |
| Е. D. Bazhanova, А. А. Kozlov, Yu. О. Sokolova | ||
| "... and underlying mechanisms, searching for genes involved in regulation of epilepsy as well as assessing ..." | ||
| Vol 11, No 4 (2019) | Significance of exome sequencing for diagnosis of epilepsy in children | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko | ||
| "... is the targeted exome sequencing, the “Hereditary epilepsy” panel of genes, and the whole exome sequencing assay ..." | ||
| Vol 4, No 3 (2012) | WAYS OF IMPROVEMENT OF PHARMACOTHERAPY OF EPILEPSY AT CHILDREN: FOCUS ON SPECIFIC FEATURES OF BIOTRANSFORMATION MEDICINES | Abstract similar documents |
| B. I. Kantemirova, A. K. Starodubtsev, D. A. Sychev, V. V. Belopasov, Zh. M. Tsotsonava, V. I. Griganov | ||
| "... of the Astrakhan region, polymorphism of a gene of CYP2C19 on a polymorphic marker of G681A is studied ..." | ||
| Vol 7, No 1 (2015) | SEVERE EPILEPTIC ENCEPHALOPATHY OF EARLY CHILDHOOD DUE TO SCN2A MUTATION | Abstract similar documents |
| I. S. Bachtin, E. D. Belousova, P. A. Shatalov, S. O. Ayvazyan | ||
| "... . Обнаружена мутация в гене SCN2A второй хромосомы в виде инсерции ctg/ctGg в гетерозиготном состоянии. Мутация ..." | ||
| Vol 14, No 1 (2022) | Myoclonic epilepsy with ragged red fibers in childhood | Abstract similar documents |
| Z. G. Tadtaeva, A. N. Galustyan, М. Yu. Krivdina, V. V. Rusanovsky, E. A. Efet, A. Е. Krivoshein, N. A. Kuritsyna, О. A. Gromova | ||
| "... transport RNA gene – MTTLys. The disease diagnostics causes certain difficulties due to the insufficient ..." | ||
| Vol 6, No 3 (2014) | SEIZURES AS THE DEBUT SYMPTOMS OF ACUTE PAEDIATRIC STROKE | Abstract similar documents |
| L. V. Shalkevich, O. A. Lvova, A. N. Dron | ||
| "... ; hyperhomocysteinemia; thrombophilic genes polymorphisms (more than 3) in children or in family. Clinical case of 6 y ..." | ||
| Vol 15, No 4 (2023) | Epilepsy and MELAS syndrome: literature review and clinical observation | Abstract similar documents |
| А. М. Teplysheva, М. А. Glazova, R. N. Konovalov | ||
| "... in the MTTL1 gene. A common clinical manifestation of the syndrome is presented by epileptic seizures (ES ..." | ||
| Vol 12, No 1S (2020) | Genetic epilepsy with febrile seizures plus (GEFS+) | Abstract similar documents |
| A. A. Sharkov | ||
| "... , disorders in the SCN1B, SCN1A, GABRG2, GABRD, SCN9A, STX1B, HCN1 genes, etc.) and copy number variations ..." | ||
| Vol 14, No 2 (2022) | Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko | ||
| "... with Freeman–Sheldon syndrome had no mutations in genes associated with distal arthrogryposis. Chromosomal ..." | ||
| Vol 10, No 3 (2018) | Etiologies of neonatal seizures in infants of different gestational age | Abstract similar documents |
| A. N. Zavadenko, M. I. Medvedev, M. G. Degtyareva, S. O. Rogatkin, N. N. Zavadenko | ||
| "... no indications of early brain damage are apparent. This approach is important today as targeted therapies of gene ..." | ||
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