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| Issue | Title | |
| Vol 17, No 2 (2025) | Neurological manifestations of hereditary chromosomal diseases | Abstract similar documents |
| L. B. Novikova, N. M. Faizullina, A. P. Akopyan, K. M. Ziultsle | ||
| "... The article describes three clinical cases of hereditary disorders associated with chromosomal ..." | ||
| Vol 16, No 3 (2024) | Drug-resistant epilepsy cases in chromosomal pathology | Abstract similar documents |
| L. B. Novikova, A. P. Akopyan, R. F. Latypova, N. M. Faizullina | ||
| "... Two cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal ..." | ||
| Vol 9, No 4 (2017) | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY | Abstract similar documents |
| A. G. Malov | ||
| "... The currently accepted approaches to clinical and para-clinical diagnosis of hereditary forms ..." | ||
| 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 4 (2018) | Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases | Abstract similar documents |
| M. B. Mironov, N. V. Chebanenko, S. O. Ayvazyan, S. A. Vladimirova, K. V. Osipova, S. G. Burd, Yu. V. Rubleva, T. M. Krasilshchikova, V. G. Bychenko | ||
| 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 10, No 4 (2018) | Epileptic manifestations, cognitive impairment and autism spectrum disorders in patients with agenesis of the corpus callosum: the results of neuropsychological testing | Abstract similar documents |
| O. A. Milovanova, O. A. Коmissarovа, T. Yu. Tarakanova, S. V. Bugry, G. G. Avakyan | ||
| "... syndrome (n=3), microdeletion of the 3X long shoulder (n=1), and Miller-Dieker syndrome (n=1). Group II ..." | ||
| Vol 6, No 4 (2014) | THE ROLE OF HEREDITARY DISORDERS OF METABOLISM of FOLIC ACID IN THE DEVELOPMENT OF CONGENITAL DEFECT FETUS IN WOMEN WITH EPILEPSY AND RECEIVING ANTIEPILEPTIC DRUGS | Abstract similar documents |
| D. V. Dmitrenko, N. A. Shnayder, Y. B. Govorina, A. V. Muravievа, K. A. Gazenkampf | ||
| "... associated with hereditary metabolic disorders of folic acid. Conclusions. Women which receive AEDs and have ..." | ||
| Vol 9, No 3 (2017) | USE OF VALPROIC ACID IN WOMEN WITH EPILEPSY DURING PREGNANCY | Abstract similar documents |
| A. V. Yakunina, I. E. Poverennova, V. A. Kalinin, S. A. Nenasheva | ||
| "... to monogenic and chromosomal abnormalities. The reported incidence of MCM in the population of the Samara ..." | ||
| 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 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 | ||
| "... . DNA analysis confirmed heterozygous missense mutation in exon 16 of DEPDC5 gene, without chromosomal ..." | ||
| Vol 6, No 4 (2014) | REVEALING OF RISK FACTORS SYMPTOMATIC EPILEPSY AT SECONDARY ENCEPHALITIS | Abstract similar documents |
| Yo. N. Madjidova, A. E. Khalilova, N. R. Sharipova | ||
| "... epilepsy, where importance ones was unfavorable perinatal background and hereditary fatality of children ..." | ||
| 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 | ||
| "... of these unique, usually hereditary diseases. Clinical diagnosis remains the key to the treatment choice ..." | ||
| Vol 8, No 4 (2016) | EPILEPSY MANIFESTATIONS IN PATIENTS WITH MALFORMATIONS OF THE CORPUS CALLOSUM | Abstract similar documents |
| O. A. Milovanova, E. R. Moyzykevich, G. G. Avakian, Y. Yu. Tarakanova | ||
| "... of the example of two disembriogenetic syndromes (Aicardi syndrome and Pierre-Robin syndrome). These hereditary ..." | ||
| Vol 7, No 1 (2015) | THE RISK FACTORS IN RELAPSE OF FEBRILE CONVULSIONS | Abstract similar documents |
| A. F. Dolinina, L. L. Gromova, K. Yu. Mukhin | ||
| "... : hereditary burden on febrile attacks, the presence of perinatal pathology, frequent acute respiratory ..." | ||
| 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 12, No 1S (2020) | Genetic epilepsy with febrile seizures plus (GEFS+) | Abstract similar documents |
| A. A. Sharkov | ||
| "... генах SCN1B, SCN1A, GABRG2, GABRD, SCN9A, STX1B, HCN1 и др.), так и хромосомные перестройки. Близнецовые ..." | ||
| 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 | ||
| "... Aim. To consolidate literature data and to demonstrate rare hereditary neurogenetic syndromes ..." | ||
| 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 ..." | ||
| 1 - 19 of 19 Items | ||
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