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Epilepsy and paroxysmal conditions

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Vol 13, No 1 (2021) Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Luk’yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko
"... . The whole exome sequencing allowed to reveal compound heterozygous variants  of the nucleotide sequence ..."
 
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 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 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
"... conducting targeted exomic sequencing, we revealed a previously undescribed variant of the nucleotide ..."
 
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