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| Issue | Title | |
| 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 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 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 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 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 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 ..." | ||
| 1 - 8 of 8 Items | ||
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