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Issue | Title | |
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 | ||
"... rare case of epileptic encephalopathy associated with incertion of ctg/ctGg in SCN2A. The female child ..." | ||
Vol 4, No 2 (2012) | MULTIFOCAL EPILEPSY – VIEW OF MODERN NEUROPHYSIOLOGIST | Abstract similar documents |
V. O. Generalov, G. N. Avakyan, T. R. Sadykov, Yu. V. Kazakova | ||
"... are epileptic encephalopathies, genetic canalopathies and consequences of perinatal brain lesions. Formation ..." | ||
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 | ||
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 | ||
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 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 | ||
"... and epileptic encephalopathy 5 (ОMIM: 613477). The clinical history, electroencephalographic and magnetic ..." | ||
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 | ||
"... with epileptic encephalopathy (NGS), we detected a nucleotide heterozygous variant of the ALDH7A1 gene ..." | ||
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 | ||
"... ) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take ..." | ||
1 - 8 of 8 Items |
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