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Epilepsy and paroxysmal conditions

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Issue Title
 
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
"... Introduction. Epilepsy is a neurological disorder characterized by periodic seizure attacks ..."
 
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
"... We present the clinical case of patient with epilepsy, developmental retardation and hearing loss ..."
 
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
"... with developmental delay, speech disorder, motor development delay and epilepsy coupled to described variants in PACS ..."
 
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
"... the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy ..."
 
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
"... Focal epilepsy is the most common type of epilepsy accounting for 60–70% of all cases ..."
 
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
 
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