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Epilepsy and paroxysmal conditions

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Issue Title
 
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
"... , магнитно-резонансная томографии головного мозга. При проведении таргетного экзомного секвенирования панели ..."
 
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
"... , нарушением поведения и выявленной мутацией в гене ADNP. При проведении таргетного экзомного секвенирования ..."
 
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
"... generation sequencing): таргетное экзомное секвенирование – панель генов «Наследственная эпилепсия» и ..."
 
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
"... развития и снижением слуха. При проведении полноэкзомного секвенирования выявлены компаунд-гетерозиготные ..."
 
Vol 17, No 2 (2025) A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in DOCK11 gene Abstract  similar documents
T. V. Kozhanova, S. S. Zhylina, T. I. Meshcheryakova, A. A. Abramov, M. M. Abidova, T. S. Kaminskaya, A. I. Krapivkin, N. N. Zavadenko
 
Vol 14, No 3 (2022) Whole-exome sequencing of patients with juvenile myoclonic epilepsy Abstract  similar documents
E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko
"... генетического анализа, в частности проведение полноэкзомного и полногеномного секвенирования, позволяет ..."
 
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
"... метода массового параллельного секвенирования в диагностике заболевания с поражением нервной системы. В ..."
 
Vol 15, No 4 (2023) DEPDC5-related familial focal epilepsy Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, L. M. Sushko, E. G. Lukyanova, K. V. Osipova, A. I. Krapivkin, N. N. Zavadenko
"... секвенирования. ..."
 
Vol 16, No 1 (2024) SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko
 
Vol 16, No 2 (2024) A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome) Abstract  similar documents
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko
 
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
"... речевого развития. При проведении полноэкзомного секвенирования выявлены гетерозиготные варианты ..."
 
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