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Epilepsy and paroxysmal conditions

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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 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 ..."
 
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