Order results by:
| Issue | Title | |
| 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 the genetic diagnosis of epilepsy relies on targeted gene panels, whole exome sequencing or whole genome ..." | ||
| 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 | ||
| "... epilepsy with onset in adolescence and adulthood. During medical genetic counseling in probands with JME ..." | ||
| 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 | ||
| "... . Around 70–80% of epilepsy cases have a hereditary component. Aim: to identify the genetic factors ..." | ||
| 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 | ||
| "... dominant genetic syndrome characterized by developmental delay, intellectual disability, dysmorphic ..." | ||
| 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 | ||
| "... conducting targeted exomic sequencing, we revealed a previously undescribed variant of the nucleotide ..." | ||
| 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 | ||
| "... of epilepsy, the genetic testing by whole exome or whole genome sequencing should be performed. ..." | ||
| 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 | ||
| "... . The whole exome sequencing was performed (Next Generation Sequencing with the Illumina HiSeq 1500 platform ..." | ||
| 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 | ||
| "... . DNA sequencing was performed using the "Hereditary epilepsies" panel (Next Generation Sequencing ..." | ||
| 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 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 | ||
| "... . The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence ..." | ||
| Vol 12, No 1S (2020) | EEG in genetic generalized epilepsies | Abstract similar documents |
| V. Yu. Nogovitsyn, A. A. Sharkov | ||
| "... Genetic, or idiopathic, generalized epilepsies (GGEs or IGEs) includes childhood absence epilepsy ..." | ||
| Vol 14, No 1 (2022) | Idiopathic and symptomatic forms of genetic epilepsy | Abstract similar documents |
| A. G. Malov | ||
| "... Against Epilepsy, idiopathic epilepsies are recommended to refer to genetic epilepsy, suggesting ..." | ||
| 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 | ||
| 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 | ||
| "... exome sequencing. Mutations in SPTAN1 gene have been described in patients with developmental ..." | ||
| 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 | ||
| "... and 18 years old. Half of patients with this condition have relatives with epilepsy. The genetic basis ..." | ||
| Vol 12, No 1S (2020) | Genetic epilepsy with febrile seizures plus (GEFS+) | Abstract similar documents |
| A. A. Sharkov | ||
| "... the great contribution of genetic causes to the development of genetic epilepsy with febrile seizures plus ..." | ||
| Vol 9, No 4 (2017) | NEURODEVELOPMENTAL DISORDERS IN CHILDREN WITH EPILEPSY: INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDERS | Abstract similar documents |
| N. N. Zavadenko | ||
| "... -occur just by chance; epilepsy and autism are associated because both originate from the same genetic ..." | ||
| 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 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 | ||
| 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 | ||
| "... factors of mortality in epileptic patients. There is an increased risk of SUDEP in genetic epileptic ..." | ||
| Vol 12, No 4 (2020) | Heart rate and conductivity disorders in juvenile myoclonic epilepsy: genetic predictors | Abstract similar documents |
| N. A. Shnayder, M. M. Petrova, K. V. Petrov, D. V. Dmitrenko, R. F. Nasyrova | ||
| "... . This lecture presents important elements of knowledge about the genetic predictors of cerebrocardial syndrome ..." | ||
| Vol 12, No 2 (2020) | Efficacy assessment of levetiracetam monotherapy in newly-diagnosed epilepsy in adults using epileptiform activity index | Abstract similar documents |
| V. A. Karlov, A. B. Kozhokaru, P. N. Vlasov, A. S. Samoilov, Yu. D. Udalov | ||
| "... фокальной эпилепсией (ФЭ) вошли 42 (39,3%) пациента и с идиопатической = генетической генерализованной ..." | ||
| Vol 9, No 4 (2017) | CHRONOBIOLOGY OF EPILEPSY: SEASONAL VARIATIONS IN BIRTH RATES | Abstract similar documents |
| O. M. Oleynikova, A. A. Savenkov, G. G. Avagyan, M. A. Bogomazova, G. N. Avakyan | ||
| "... classification (2017): genetic generalized – 1475 (21.27%); structural focal – 3972 (57.28%) and unspecified ..." | ||
| 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 | ||
| "... for up to 10% of familial focal epilepsy cases. Genetic testing, electroencephalography (EEG), and brain ..." | ||
| Vol 11, No 2 (2019) | Evolution of genetically determined generalized epilepsies | Abstract similar documents |
| E. A. Morozova, F. I. Gusyakov | ||
| "... This article analyzes the available literature regarding the clinical manifestations, genetic ..." | ||
| Vol 13, No 1 (2021) | Video-EEG monitoring in diagnostics and treatment efficacy evaluation in newly-diagnosed generalized epilepsy in adults | Abstract similar documents |
| A. B. Kozhokaru, V. A. Karlov, P. N. Vlasov, A. S. Orlova | ||
| 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 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 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 | ||
| "... 19 as well as the gene ABCB1 encoding transporter protein P-glycoprotein. Genetic variants in CYP2C9 ..." | ||
| 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 | ||
| "... molecular cytogenetic technologies in the search for disease-related genetic causes in the absence ..." | ||
| 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 12, No 1 (2020) | Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases | Abstract similar documents |
| O. A. Komissarova, O. A. Milovanova, G. G. Avakyan, S. V. Bugriy | ||
| "... genetic, neurological, psychopathological, pathopsychological, laboratory, and instrumental examinations ..." | ||
| 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 | ||
| "... sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA ..." | ||
| Vol 8, No 1 (2016) | NEURODEVELOPMENTAL DISORDERS IN CHILDREN WITH EPILEPSY | Abstract similar documents |
| N. N. Zavadenko | ||
| "... У детей с эпилепсией значительно чаще, чем у ровесников, встречаются нарушения нервно-психического ..." | ||
| Vol 10, No 2 (2018) | Neurophysiological parameters and the tone of the autonomic nervous system in patients with migraine and epilepsy | Abstract similar documents |
| N. D. Sorokina, G. V. Selitsky, A. V. Tsagashek, A. S. Zherdeva | ||
| "... соотношении с адаптивными реакциями тонуса автономной нервной системы (индексы вариабельности сердечного ..." | ||
| Vol 8, No 1 (2016) | Congratulations to V.A. Karlov from the staff of Department of diseases of nervous system of Faculty of general medicine at A.I. Evdokimov Moscow State University of Medicine and Dentistry | Abstract similar documents |
| Editorial article | ||
| Vol 7, No 3 (2015) | RÜLFS CRAMP AND OTHER PAROXYSMAL DYSKINESIA | Abstract similar documents |
| M. V. Selikhova, Z. Z. Zalyalova, N. I. Bogdanova, G. G. Avakyan, G. Houlden | ||
| "... to treatment and genetic difference. We reviewed clinical characteristics and the main advances in genetics ..." | ||
| Vol 13, No 3 (2021) | Neurophysiological features in patients with migraine at risk for epilepsy | Abstract similar documents |
| N. D. Sorokina, A. V. Tsagashek, S. S. Pertsov, G. V. Selitsky, A. S. Zherdeva | ||
| "... особенностей автономной нервной системы по показателям вариабельности сердечного ритма, вызванным кожным ..." | ||
| 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 | ||
| "... that also included molecular genetic testing. The progredient progression and multiple symptoms ..." | ||
| Vol 8, No 2 (2016) | THE COMPARATIVE EFFICACY OF PERSONALIZING THERAPY WITH ANTICONVULSANTS AND ANTIPSYCHOTICS ON THE BASIS OF PHARMACOGENETIC TESTING | Abstract similar documents |
| T. V. Dokukina, A. I. Startsev, M. V. Makhrov, I. V. Haidukevich, T. S. Golubeva, A. A. Gilep, E. A. Sheremet, I. V. Shamruk, A. S. Pinchuk, S. A. Marchuk, F. P. Khlebokazov, N. N. Misyuk | ||
| "... . Results. As a result, taking into account the genetic information in 79% of patients with epilepsy ..." | ||
| Vol 13, No 3 (2021) | Mozart effect in patients with epilepsy | Abstract similar documents |
| Ya. B. Skiba, M. M. Odinak, A. Yu. Polushin, M. Yu. Prokudin, M. V. Selikhova, S. N. Bardakov, M. Yu. Ratanov, V. I. Pustovoyt | ||
| Vol 3, No 4 (2011) | KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE | Abstract similar documents |
| N. Yu. Borovikova, K. S. Borovikov, K. Yu. Mukhin, M. B. Mironov | ||
| "... Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar ..." | ||
| Vol 4, No 2 (2012) | EPILEPSY IN CHILDREN WITH MYTOCHONDRIAL DISEASES: DIAGNOSTICS AND TREATMENT FEATURES | Abstract similar documents |
| N. N. Zavadenko, A. A. Kholin | ||
| "... -Huttenlocher syndrome. The genetic background of MD is discussed as well as methods for establishing ..." | ||
| Vol 13, No 2 (2021) | Pharmacological predictors of heart rate and conductivity disorders in juvenile myoclonic epilepsy | Abstract similar documents |
| N. A. Shnayder, M. M. Petrova, K. V. Petrov, R. F. Nasyrova | ||
| "... Juvenile myoclonic epilepsy (JME) is the most common form of genetic generalized epilepsy ..." | ||
| Vol 4, No 1 (2012) | HYPOMELANOSIS OF ITO WITH EPILEPSY: TWO CASES IN CLINICAL PRACTICE | Abstract similar documents |
| M. B. Mironov, N. Yu. Borovikova, K. S. Borovikov, K. Yu. Mukhin | ||
| "... Hypomelanosis of Ito (HI) is rare genetic disorder of the phakomatoses group. Authors represent ..." | ||
| Vol 7, No 4 (2015) | EPILEPSY AND NON-EPILEPTIC PAROXYSMS AT CHILDREN OF THE MOGILEV AREA (on materials of work of children's neurologic branch of establishment of public health services «Mogilev regional children's hospital» during 2008-2012) | Abstract similar documents |
| S. N. Prusakov, I. L. Malashko, T. S. Kaskova, M. G. Orlova | ||
| "... medical records are presented. The statistical analysis of the social status, perinatal and the genetic ..." | ||
| Vol 14, No 2 (2022) | Epilepsy syndromes: the 2022 ILAE definition and classification | Abstract similar documents |
| D. V. Blinov | ||
| "... , genetic, metabolic, immune, and infectious)”. The classification of epileptic syndromes is proposed ..." | ||
| 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 | ||
| "... rat strain represent a suitable genetic model for audiogenic epilepsy to dissect the mechanisms ..." | ||
| Vol 13, No 1S (2021) | A life-long neurology | Abstract similar documents |
| P. N. Vlasov | ||
| Vol 8, No 4 (2016) | NONCONVULSIVE STATUS EPILEPTICUS IN PATIENTS WITH LIMBIC ENCEPHALITIS | Abstract similar documents |
| M. A. Sherman, I. V. Ardashev, I. V. Ponomareva, H. Sherman | ||
| 1 - 50 of 95 Items | 1 2 > >> | |
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