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Issue | Title | |
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 | ||
"... signs of epilepsy. Whole exome sequencing was carried out by using MiSeq (Illumina, USA), bioinformatics ..." | ||
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 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 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 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 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 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 | ||
"... the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy ..." | ||
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 | ||
"... with developmental delay, speech disorder, motor development delay and epilepsy coupled to described variants in PACS ..." | ||
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 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 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 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 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 | ||
"... Sequencing (NGS) methods (such as "Hereditary epilepsies" panel), combined with full exome 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 | ||
"... psychomotor development is described. Exome-wide sequencing was carried out by using NextSeq 500 (Illumina ..." | ||
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 | ||
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 | ||
"... of mutations detected by whole exome sequencing. ..." | ||
Vol 14, No 2 (2022) | Epilepsy syndromes: the 2022 ILAE definition and classification | Abstract similar documents |
D. V. Blinov | ||
"... League Against Epilepsy (ILAE) was available. In 2022, owing to many year-persistent efforts made ..." | ||
Vol 4, No 1 (2012) | CLINICAL-EPIDEMIOLOGICAL EPILEPSY CHARACTERISTICS IN TRANSBAIKALIA | Abstract similar documents |
Yu. A. Kritskaya, N. A. Shnayder, Yu. A. Shirshov | ||
"... The epidemiological study of epilepsy in the Transbaikal region, using the homestead bypass ..." | ||
Vol 14, No 1 (2022) | Autoimmune epilepsy | Abstract similar documents |
О. S. Shilkina, E. A. Kantimirova, A. A. Usoltseva, Т. I. Prusova, D. V. Dmitrenko | ||
"... Investigation of autoimmune epilepsy (AIE) has been attracting increasingly more attention due ..." | ||
Vol 16, No 2 (2024) | Stigmatization of epilepsy | Abstract similar documents |
А. Yu. Ulitin, А. V. Vasilenko, S. G. Ismailov, S. N. Chudievich, S. Kh. Soltanov, А. Z. Gagiev, М. А. Kholodova, А. S. Golikova, М. А. Likhachev, М. А. Bulaeva, G. А. Ulitin | ||
"... Epilepsy belongs to one of the most ancient diseases. From the days of yore, patients suffering ..." | ||
Vol 6, No 2 (2014) | STUDY OF THE INCIDENCE AND PREVALENCE OF EPILEPSY IN MINSK | Abstract similar documents |
T. V. Dokukina, T. S. Golubeva, I. V. Matveichuk, M. V. Mahrov, V. M. Loseva, E. V. Krupenkina, S. A. Marchuk | ||
"... and prevalence of epilepsy in the gender-age population groups in Minsk. Materials and Methods: A retrospective ..." | ||
Vol 3, No 1 (2011) | Topiramate as an anti-epileptic medication | Abstract similar documents |
S. G. Burd | ||
"... of focal and generalized epilepsy, as well as a host of epileptic syndromes. Topamax can be a first-choice ..." | ||
Vol 1, No 1 (2009) | MIGRAINE AND EPILEPSY | Abstract similar documents |
Yu. E. Azimova, G. R. Tabeeva | ||
"... Migraine and epilepsy are comorbid neurological diseases that have common clinical ..." | ||
Vol 15, No 2 (2023) | Epilepsy in literature | Abstract similar documents |
А. Yu. Ulitin, А. V. Vasilenko, A. V. Ivanenko, S. S. Kolosov, I. А. Sokolov, S. А. Turanov, G. А. Ulitin, А. А. Vinogradova | ||
"... understanding and began to consider epilepsy not only as a severe, chronic, and widespread brain disease ..." | ||
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 | ||
"... sequencing techniques – such as the “hereditary epilepsy” panel, as well as clinical and full-exom sequencing ..." | ||
Vol 11, No 1 (2019) | Efficacy and safety of vagal nerve stimulation in patients with pharmacoresistant epilepsy | Abstract similar documents |
I. G. Areshkina, D. V. Dmitrenko, N. A. Shnayder, E. A. Narodova | ||
"... epilepsy. Objective: to analyze the efficacy and safety of the Vagal Nerve Stimulation (VNS) procedure ..." | ||
Vol 3, No 2 (2011) | Epileptic syndromes in children with cerebral palsy | Abstract similar documents |
T. T. Batysheva, A. N. Platonova, O. V. Bykova | ||
"... Modern data of frequency and structure of epilepsy in children with cerebral palsy were analyzed ..." | ||
Vol 14, No 1 (2022) | Epilepsy in Norrie disease | Abstract similar documents |
V. A. Aysina, О. V. Kozhevnikova, О. V. Osipova, A. V. Lashkova | ||
"... of refractory epilepsy relevant to the disease are considered. Epilepsy rarely accompanies Norrie disease ..." | ||
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 | ||
"... For a long time, people suffering from epilepsy have been feared, suspected, and misunderstood ..." | ||
Vol 3, No 4 (2011) | DEREALIZATION DISORDERS IN EPILEPSY | Abstract similar documents |
P. N. Vlasov, A. V. Chervyakov, G. R. Drozzhina, M. V. Antonyuk, N. V. Orekhova, V. V. Gnezditsky, T. Yu. Noskova, P. A. Fedin | ||
"... disorders (DD) in epilepsy. Materials and Methods: the total study group was 152 persons (mean age 25,17±9 ..." | ||
Vol 11, No 1 (2019) | Pathogenesis of drug resistant epilepsy | Abstract similar documents |
S. M. Malyshev, T. M. Alekseeva, W. A. Khachatryan, M. M. Galagudza | ||
"... Pharmacotherapy is the first-line treatment modality for epilepsy. However, in 20-40% of patients ..." | ||
Vol 11, No 1 (2019) | Resolved epilepsy: an updated insight | Abstract similar documents |
S. A. Gromov, N. A. Sivakova | ||
"... Classification of epilepsy is of great importance at the stages of rehabilitation when the disease ..." | ||
Vol 12, No 4 (2020) | “Suicidal passport” for epilepsy | Abstract similar documents |
N. I. Shova, V. А. Mikhailov, G. V. Odintsova | ||
"... to psychiatric comorbidity and suicidal behaviour in people with epilepsy. It is particularly important to find ..." | ||
Vol 9, No 3 (2017) | DIAGNOSIS OF OCCIPITAL LOBE EPILEPSY | Abstract similar documents |
M. A. Lutskiy, M. V. Uvarova, V. P. Savinykh, V. A. Bykova | ||
"... -encephalography (EEG) monitoring in diagnosis of occipital lobe epilepsy. Materials and methods. The study ..." | ||
Vol 6, No 3 (2014) | A NEW CLINICAL DEFINITION OF EPILEPSY | Abstract similar documents |
T. V. Dokukina, M. V. Makhrov | ||
"... Abstract: the article provides a revised definition of epilepsy, according to the recommendations ..." | ||
Vol 6, No 1 (2014) | NEUROIMMUNOPATHOGENIC MECHANISMS OF EPILEPSY | Abstract similar documents |
Yо. N. Madjidova, G. S. Rakhimbaeva, R. B. Azizova | ||
"... with epilepsy. The group of control included 10 healthy subjects of the comparable age.There were studied ..." | ||
Vol 14, No 1 (2022) | Idiopathic and symptomatic forms of genetic epilepsy | Abstract similar documents |
A. G. Malov | ||
"... According to the new classification of the epilepsies proposed in 2017 by The International League ..." | ||
Vol 3, No 2 (2011) | ISSUES OF RELAPSES IN ADULT PATIENTS WITH EPILEPSY | Abstract similar documents |
V. A. Karlov, E. M. Rokotyanskaya, G. A. Kovalenko | ||
"... of an epilepsy, and also correlation revealing between duration of disease and risk of relapse. We had been ..." | ||
Vol 11, No 3 (2019) | The role of a neurologist in deciding on the treatment options in epilepsy: therapy and/or surgery | Abstract similar documents |
K. V. Voronkova, A. I. Fedin, A. E. Nikitin, A. A. Zuev, N. V. Pedyash, D. M. Bochaeva | ||
"... The existing approaches to treating epilepsy can be classified as therapeutic and/or surgical ..." | ||
Vol 13, No 1 (2021) | Motor neurorehabilitation in patients with epileptic seizures: limitations of methods with proven efficacy in stroke | Abstract similar documents |
R. Kh. Lyukmanov, A. A. Rimkevichus, E. V. Shalimanova, K. V. Voronkova, N. A. Suponeva, М. А. Piradov | ||
"... Patients with epilepsy may require a neurorehabilitation aid particularly due to developing motor ..." | ||
Vol 16, No 1 (2024) | Postinfectious epilepsy: clinical and diagnostical features | Abstract PDF (Eng) similar documents |
А. V. Vasilenko, А. Yu. Ulitin, L. S. Onishchenko, N. I. Ananyeva, R. V. Grebenshchikova, О. N. Gaykova, А. V. Ivanenko, S. S. Kolosov, S. А. Turanov, S. N. Chudievich | ||
"... of several neurological disorders, including epilepsy. For many years, it was believed that acute infectious ..." | ||
Vol 7, No 4 (2015) | CHOICE OF ALTERNATIVE MONOTHERAPY IN EPILEPSY | Abstract similar documents |
I. Ju. Kovaleva | ||
"... to tolerate an initial medication. While monotherapy is preferable in epilepsy treatment we need an alteration ..." | ||
Vol 2, No 3 (2010) | POST-TRAUMATIC EPILEPSY | Abstract similar documents |
M. R. Yarmukhametova | ||
"... Post-traumatic epilepsy (PTE) is a serious problem. Selection of adequate medicinal treatment ..." | ||
Vol 1, No 1 (2009) | PREGNANCY IN EPILEPSY: AN EVIDENCE-BASED MEDICINE APPROACH | Abstract similar documents |
P. N. Vlasov | ||
"... The article touches upon major issues related to pregnancy in epilepsy using the authors’ own ..." | ||
Vol 8, No 2 (2016) | TREATMENT OF EPILEPSY IN TUBEROUS SCLEROSIS | Abstract similar documents |
E. D. Belousova, M. Y. Dorofeeva, T. G. Ohapkina | ||
"... Epilepsy is the most frequent neurological sign of tuberous sclerosis complex (TSC) and it ..." | ||
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 12, No 1S (2020) | Juvenile Myoclonic Epilepsy. Update | Abstract similar documents |
I. V. Volkov, O. K. Volkova | ||
"... Juvenile myoclonic epilepsy (JME) is a common disease. However, some aspects of etiology ..." | ||
Vol 4, No 1 (2012) | ROLE OF TOPIRAMATE IN TREATMENT OF EPILEPSY | Abstract similar documents |
S. G. Burd | ||
"... of epilepsy. Pharmacokinetic and pharmacodynamiccharacteristics of the medicine are presented in the article ..." | ||
Vol 8, No 1 (2016) | EPILEPSY IN INBORN ERRORS OF METABOLISM | Abstract similar documents |
E. D. Belousova | ||
"... Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially ..." | ||
Vol 7, No 4 (2015) | EPILEPSY IN CHILDREN WITH STROKE | Abstract similar documents |
I. O. Shchederkina, N. N. Zavadenko, I. E. Koltunov | ||
"... of cases the cause is not identified. We have analyzed the incidence of epilepsy in children with stroke ..." | ||
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