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| 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 ..." | ||
| 1 - 19 of 19 Items | ||
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