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Epilepsy and paroxysmal conditions

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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 “neurocardiacgenes ..."
 
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 ..."
 
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