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Epilepsy and paroxysmal conditions

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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 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 15, No 1 (2023) Opportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseases Abstract  similar documents
T. V. Kozhanova
 
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 9, No 2 (2017) EFFICACY AND SAFETY OF LEVETIRACETAM IN CHILDREN WITH ELECTRICAL STATUS EPILEPTICUS DURING SLOW-WAVE SLEEP (ESES) Abstract  similar documents
A. A. Kholin, N. N. Zavadenko, I. D. Fedonyuk, E. S. Il`ina
"... ”) is a form of age-dependent epileptic encephalopathies with the phenomenon of continuous spike-waves during ..."
 
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 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 13, No 2 (2021) Early infantile epileptic encephalopathy type 54: clinical and neurophysiological aspects Abstract  similar documents
D. V. I, V. A. Aysina
"... A clinical case of a boy aged 20 months old with early infantile epileptic encephalopathy (EIEE ..."
 
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
"... in 165 newborns divided into four groups: I – 84 early preterm newborns with GA of 28 weeks or less, II ..."
 
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
"... anamnesis, children with epileptic encephalopathy need genetic examination using the Next Generation ..."
 
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 ..."
 
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