Preview

Epilepsy and paroxysmal conditions

Advanced search

Search


Order results by:     
 
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 ..."
 
1 - 50 of 511 Items 1 2 3 4 5 6 7 8 9 10 > >> 

Search tips:

  • Search terms are case-insensitive
  • Common words are ignored
  • By default articles containing any term in the query are returned (i.e., OR is implied)
  • Make sure that a word exists in an article by prefixing it with +; e.g., +journal +access scholarly academic
  • Combine multiple words with AND to find articles containing all terms; e.g., education AND research
  • Exclude a word by prefixing it with - or NOT; e.g., online -politics or online NOT politics
  • Search for an exact phrase by putting it in quotes; e.g., "open access publishing". Hint: Quoting Chinese or Japanese words will help you to find exact word matches in mixed-language fields, e.g. "中国".
  • Use parentheses to create more complex queries; e.g., archive ((journal AND conference) NOT theses)