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1Academic Journal
Authors: M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya, М. С. Маслов, А. М. Свиридова, М. А. Залевская
Source: Russian Journal of Child Neurology; Том 20, № 1 (2025); 32-38 ; Русский журнал детской неврологии; Том 20, № 1 (2025); 32-38 ; 2412-9178 ; 2073-8803
Subject Terms: фармакорезистентная эпилепсия, infantile epilepsy, microcephaly-capillary malformation syndrome, STAMBP gene, early infantile epileptic encephalopathy, early infantile myoclonic epileptic encephalopathy, antiepileptic therapy, pharmacoresistant epilepsy, младенческая эпилепсия, синдром микроцефалии с капиллярными мальформациями, ген STAMBP, ранняя младенческая эпилептическая энцефалопатия, ранняя младенческая миоклоническая эпилептическая энцефалопатия, антиэпилептическая терапия
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Relation: https://rjdn.abvpress.ru/jour/article/view/510/348; Демикова Н.С., Какаулина В.С., Печатникова Н.Л. и др. Синдром микроцефалии с капиллярными мальформациями. Педиатрия 2016;95(5);110–4.; Щугарева Л.М., Потешкина О.В., Шумеева А.Г., Галактионова С.М. Резистентная эпилепсия у ребенка с микроцефальнокапиллярным мальформационным синдромом. Журнал неврологии и психиатрии им. С.С. Корсакова 2020;120(8):110–6.; Carter M., Geraghty M., de la Cruz L. et al. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A 2011;155(2):301–6.; Carter M.T., Mirzaa G., McDonell L.M., Boycott K.M. Microcephaly-Capillary Malformation Syndrome. In: GeneReviews®. Seattle: University of Washington, 1993–2024.; Isidor B., Barbarot S., Bénéteau C. et al. Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome. Am J Med Genet A 2011;155(6):1458–60.; McDonell L.M., Mirzaa G.M., Alcantara D. et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet 2013;45(5):556–62. DOI:10.1038/ng.2602; Pavlović M., Neubauer D., Al Tawari A., Heberle L. The microcephaly-capillary malformation syndrome in two brothers with novel clinical features. Pediatr Neurol 2014;51(4):560–5.; Postma J.K., Zambonin J.L., Khouj E. et al. Further clinical delineation of microcephaly-capillary malformation syndrome. Am J Med Genet A 2022;188A:3350–7. DOI:10.1002/ajmg.a.62936; STAMPB Gene – STAM Building Protein. The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses. Available at: hhtp://www.genecards.org/cgi-bin/carddisp.pl?gene=STAMPB.; Wang H., Wang Z., Ji T. et al. Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat–Wilson syndrome. Heliyon 2023;9(12):e22989. DOI:10.1016/j.heliyon.2023.e22989; https://rjdn.abvpress.ru/jour/article/view/510
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2Academic Journal
Authors: Batyrov M.A., Per Н., Mamytova E.M., Nurbekova U.A.
Contributors: The work was performed without external funding., Работа выполнена без спонсорской поддержки.
Source: Russian Journal of Child Neurology; Vol 20, No 2 (2025); 71-77 ; Русский журнал детской неврологии; Vol 20, No 2 (2025); 71-77 ; 2412-9178 ; 2073-8803
Subject Terms: HECW2 mutations, epileptic encephalopathy, genetic epilepsy, phenobarbital, drug-resistant seizures, neurogenesis, мутации гена HECW2, эпилептическая энцефалопатия, генетическая эпилепсия, фенобарбитал, резистентные приступы, нейрогенез
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Relation: https://rjdn.abvpress.ru/jour/article/view/523/359; https://rjdn.abvpress.ru/jour/article/view/523
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3Academic Journal
Authors: Mukhin K.Y., Pylaeva O.A., Мarkin А.V.
Source: Russian Journal of Child Neurology; Vol 19, No 1 (2024); 25‑40 ; Русский журнал детской неврологии; Vol 19, No 1 (2024); 25‑40 ; 2412-9178 ; 2073-8803
Subject Terms: sulthiame, age-dependent epilepsy with central temporal spikes (rolandic epilepsy), epileptic encephalopathy, spike-and-wave activity during sleep, focal epilepsy, efficacy, tolerability, сультиам, возрастзависимая эпилепсия с центрально-темпоральными спайками (роландическая эпилепсия), эпилептическая энцефалопатия, феномен спайк-волновой активации во сне, фокальные эпилепсии, эффективность, переносимость
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Relation: https://rjdn.abvpress.ru/jour/article/view/458/313; https://rjdn.abvpress.ru/jour/article/view/458
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4Academic Journal
Authors: Maslov M.S.
Source: Russian Journal of Child Neurology; Vol 19, No 1 (2024); 41‑47 ; Русский журнал детской неврологии; Vol 19, No 1 (2024); 41‑47 ; 2412-9178 ; 2073-8803
Subject Terms: epilepsy, epileptic encephalopathy, continued epileptiform activity of slow sleep, video electroencephalographic monitoring, electrical status epilepticus during slow-wave sleep, эпилепсия, эпилептическая энцефалопатия, продолженная эпилептиформная активность в медленном сне, видеоэлектроэнцефалографическое мониторирование, электрический эпилептический статус медленного сна
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Relation: https://rjdn.abvpress.ru/jour/article/view/459/314; https://rjdn.abvpress.ru/jour/article/view/459
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5Academic Journal
Authors: R. G. Gamirova, K. R. Zabirova, E. A. Gorobets, A. R. Safina, L. R. Samoilova, S. Ya. Volgina, Р. Г. Гамирова, К. Р. Забирова, Е. А. Горобец, А. Р. Сафина, Л. Р. Самойлова, С. Я. Волгина
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 5 (2024); 109-114 ; Российский вестник перинатологии и педиатрии; Том 69, № 5 (2024); 109-114 ; 2500-2228 ; 1027-4065
Subject Terms: электроэнцефалография, SYNGAP1-related epileptic encephalopathy, autism, mental retardation, genetic epilepsy, electroencephalography, эпилептическая энцефалопатия SYNGAP1, аутизм, умственная отсталость, генетическая эпилепсия
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Relation: https://www.ped-perinatology.ru/jour/article/view/2074/1540; Vlaskamp D.R.M., Shaw B.J., Burgess R., Mei D., Montomoli M., Xie H. et al. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy [published correction appears in Neurology. 2019; 93(20): 908]. Neurology 2019; 92(2): 96–107. DOI:10.1212/WNL.0000000000006729; Nakajima R., Takao K., Hattori S., Shoji H., Komiyama N.H., Grant S.G.N. Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice. Neuropsychopharmacol Rep 2019; 39(3): 223–237. DOI:10.1002/npr2.12073; Gamache T.R., Araki Y., Huganir R.L. Twenty Years of Syn-GAP Research: From Synapses to Cognition. J Neurosci 2020; 40(8): 1596–1605. DOI:10.1523/JNEUROSCI.0420–19.2020; Llamosas N., Arora V., Vij R., Kilinc M., Bijoch L., Rojas C. et al. SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons. J Neurosci 2020; 40(41): 7980–7994. DOI:10.1523/JNEUROSCI.1367–20.2020; Clement J.P., Aceti M., Creson T.K., Ozkan E.D., Shi Y., Reish N.J. et al. Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. Cell 2012; 151(4): 709–723. DOI:10.1016/j.cell.2012.08.045; Jimenez-Gomez A., Niu S., Andujar-Perez F., McQuade E.A., Balasa A., Huss D. et al. Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression. J Neurodev Disord 2019; 11(1): 18. DOI:10.1186/s11689–019–9276-y; Wright D., Kenny A., Eley S., McKechanie A.G., Stanfield A.C. Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description. J Neurodev Disord 2022; 14(1): 34. DOI:10.1186/s11689–022–09437-x; Zhang H., Yang L., Duan J., Zeng Q., Chen L., Fang Y. et al. Phenotypes in Children With SYNGAP1 Encephalopathy in China. Front Neurosci 2021; 15: 761473. DOI:10.3389/fnins.2021.761473; von Stülpnagel C., Hartlieb T., Borggräfe I., Coppola A., Gennaro E., Eschermann K. et al. Chewing induced reflex seizures («eating epilepsy») and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases. Seizure 2019; 65: 131–137. DOI:10.1016/j.seizure.2018.12.020; Mignot C., von Stülpnagel C., Nava C., Ville D., Sanlaville D., Lesca G. et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy [published correction appears in J Med Genet. 2016; 53(10): 720]. J Med Genet 2016; 53(8): 511–522. DOI:10.1136/jmedgenet-2015–103451corr1; Weldon M., Kilinc M., Lloyd Holder J. Jr, Rumbaugh G. The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators. J Neurodev Disord 2018; 10(1): 6. DOI:10.1186/s11689–018–9225–1; Parker M.J., Fryer A.E., Shears D.J., Lachlan K.L., McKee S.A., Magee A.C. et al. De novo, heterozygous, lossof-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. Am J Med Genet A 2015; 167A(10): 2231–2237. DOI:10.1002/ajmg.a.37189
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6Academic Journal
Authors: V. V. Arkhipov, N. V. Chebanenko, D. M. Mednaya, K. M. Mantserov, В. В. Архипов, Н. В. Чебаненко, Д. М. Медная, К. М. Манцеров
Contributors: The study reported in this publication was carried out as part of publicly funded research project No. 056-00001-22-00 and was supported by the Scientific Centre for Expert Evaluation of Medicinal Products (R&D public accounting No. 121021800098-4), Работа выполнена в рамках государственного задания ФГБУ «НЦЭСМП» Минздрава России № 05600001-22-00 на проведение прикладных научных исследований (номер государственного учета НИР 121021800098-4)
Source: Safety and Risk of Pharmacotherapy; Том 11, № 3 (2023); 348-360 ; Безопасность и риск фармакотерапии; Том 11, № 3 (2023); 348-360 ; 2619-1164 ; 2312-7821
Subject Terms: новые информационные технологии, focal seizures, cerebral palsy, lamotrigine, anti-epileptic agents, developmental and epileptic encephalopathy, structural focal epilepsy, focal cortical dysplasia, efficacy, safety, new information technologies, фокальные приступы, церебральный паралич, ламотриджин, противоэпилептические препараты, эпилептическая энцефалопатия, структурная фокальная эпилепсия, фокальная корковая дисплазия, эффективность, безопасность
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Relation: https://www.risksafety.ru/jour/article/view/375/884; https://www.risksafety.ru/jour/article/downloadSuppFile/375/401; https://www.risksafety.ru/jour/article/downloadSuppFile/375/402; https://www.risksafety.ru/jour/article/downloadSuppFile/375/403; https://www.risksafety.ru/jour/article/downloadSuppFile/375/404; https://www.risksafety.ru/jour/article/downloadSuppFile/375/413; Зенков ЛР. Нейропатофизиология эпилептических энцефалопатий и непароксизмальных эпилептических расстройств и принципы их лечения. Неврология, нейропсихиатрия, психосоматика. 2010;(2):26–32.; Мухин КЮ. Вперед к Джексону! Эпилепсия и пароксизмальные состояния. 2021;13(1S):61–4. https://doi.org/10.17749/2077-8333/epi.par.con.2021.080; Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1398–442. https://doi.org/10.1111/epi.17241; Marson A, Burnside G, Appleton R, Smith D, Leach JP, Sills G, et al. The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial. Lancet. 2021;397(10282):1363–74. https://doi.org/10.1016/S0140-6736(21)00247-6; Knight R, Wittkowski A, Bromley RL. Neurodevelopmental outcomes in children exposed to newer antiseizure medications: a systematic review. Epilepsia. 2021;62(8):1765–79. https://doi.org/10.1111/epi.16953; Kumar R, Garzon J, Yuruk D, Hassett LC, Saliba M, Ozger C, et al. Efficacy and safety of lamotrigine in pediatric mood disorders: a systematic review. Acta Psychiatr Scand. 2023;147(3):248–56. https://doi.org/10.1111/acps.13500; Архипов ВВ, Манцеров КМ. Персонализированные методические подходы к вопросам контроля эффективности и безопасности фармакотерапии противоэпилептическими препаратами на основе технологий мобильной медицины. Персонализированная психиатрия и неврология. 2023;3(1):22–7. https://doi.org/10.52667/2712-9179-2023-3-1-22-27; Миронов МБ, Чебаненко НВ, Быченко ВГ, Рублева ЮВ, Бурд СГ, Красильщикова ТМ. Коморбидность детского церебрального паралича и доброкачественных эпилептиформных паттернов детства на ЭЭГ на примере клинических случаев дизиготных близнецов. Эпилепсия и пароксизмальные состояния. 2018;10(3):52–62. https://doi.org/10.17749/2077-8333.2018.10.3.052-062; Мухин КЮ, Миронов МБ, Боровиков КС, Петрухин АС. Фокальная эпилепсия детского возраста со структурными изменениями в мозге и доброкачественными эпилептиформными паттернами на ЭЭГ (ФЭДСИМ-ДЭПД) (предварительные результаты). Русский журнал детской неврологии. 2010;5(1):3–18.; Миронов МБ, Чебаненко НВ, Зыков ВП, Быченко ВГ, Медная ДМ, Красильщикова ТМ, Милованова ОА. Эпилептические синдромы, ассоциированные с фокальными клоническими приступами. Журнал неврологии и психиатрии им. С.С. Корсакова. 2023;123(3):41–5. https://doi.org/10.17116/jnevro202312303141; Пылаева ОА, Мухин КЮ. Эффективность и переносимость Сейзара (ламотриджин) в лечении эпилепсии (опыт Института детской неврологии и эпилепсии им. Свт. Луки). Русский журнал детской неврологии. 2020;15(2):17–41. https://doi.org/10.17650/2073-8803-2020-15-2-17-41; Мухин КЮ, Пылаева ОА, Бобылова МЮ, Фрейдкова НВ. Ламотриджин (Сейзар) в лечении эпилепсии: результаты 4-летнего применения препарата в Объединении медицинских учреждений по диагностике, лечению и реабилитации заболеваний нервной системы и эпилепсии им. Святителя Луки. Русский журнал детской неврологии. 2022;17(3):8–36. https://doi.org/10.17650/2073-8803-2022-17-3-8-36; Мухин КЮ, Миронов МБ, Боровиков КС, Боровикова НЮ. Электро-клиническая семиология и хронологические особенности эпилептических приступов, ассоциированных с фокальной эпилепсией детского возраста со структурными изменениями в мозге и доброкачественными эпилептиформными паттернами на ЭЭГ. Эпилепсия и пароксизмальные состояния. 2012;(4):18–25.; Groszer M. Rare human ATP6V1A variants provide unique insights into V-ATPase functions. Brain. 2022;145(8):2626–28. https://doi.org/10.1093/brain/awac255; Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, et al. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022;145(8):2687–703. https://doi.org/10.1093/brain/awac145; Эффективность, безопасность и оценка результатов медикаментозной терапии больных эпилепсией. Эпилепсия и пароксизмальные состояния. 2021;13(3):306–10. https://doi.org/10.17749/2077-8333/epi.par.con.2021.093; https://www.risksafety.ru/jour/article/view/375
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7Academic Journal
Authors: Z. K. Gorchkhanova, E. A. Nikolaeva, A. M. Pivovarova, S. V. Bochenkov, E. D. Belousova, З. К. Горчханова, Е. А. Николаева, А. М. Пивоварова, С. В. Боченков, Е. Д. Белоусова
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 67, № 6 (2022); 113-122 ; Российский вестник перинатологии и педиатрии; Том 67, № 6 (2022); 113-122 ; 2500-2228 ; 1027-4065
Subject Terms: ген МЕСР, Angelman syndrome, Rett syndrome, epileptic encephalopathy, UBE3A gene, CDKL5 gene, MECP2 gene, синдром Ангельмана, синдром Ретта, эпилептическая энцефалопатия, ген UBE3A, ген СDKL5
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DOI:10.2147/TACG.S57386; Bahi-Buisson N., Bienvenu T. CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol 2012; 2(3–5): 137–152. DOI: 000331333; Bahi-Buisson N., Villeneuve N., Caietta E., Jacquette A., Maurey H., MatthÜs G. et al. Recurrent mutations in the CDKL5gene: genotype-phenotype relationships. Am J Med Genet A 2012; 158A(7): 1612–1619. DOI:10.1002/ajmg.a.35401; Fehr S., Wilson M., Downs J., Williams S., Murgia A. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet 2013; 21(3): 266–273. DOI:10.1038/ejhg.2012.156; Jakimiec M., Paprocka J., Smigiel R. CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy. Brain Sciences 2020; 10(2): 107. DOI: org/10.3390/brainsci10020107; Adegbola A.A., Gonzales M.L., Chess A., LaSalle J.M., Cox G.F. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet 2009; 124: 615–623. DOI:10.1007/s00439–008–0585–6; Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8: 61–65. DOI:10.1002/mrdd.10020; Ramocki M.B., Tavyev Y.J., Peters S.U. The MECP2 Duplication Syndrome Am J Med Genet A 2010; 152A(5): 1079–1088. DOI:10.1002/ajmg.a.33184; El Chehadeh S., Touraine R., Prieur F., Reardon W., Bienvenu T., Chantot-Bastaraud S. et al. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? Clin Genet 2017; 91(4): 576–588. DOI:10.1111/cge.12898; Zollino M., Zweier C., Van Balkom I.D., Sweetser D.A., Alaimo J., BÜlsma E.K. et al. Genet Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet 2019; 95(4): 462–478. DOI:10.1111/cge.13506; Evans E., Einfeld S., Mowat D., Taffe J., Tonge B., Wilson M. The behavioral phenotype of Mowat– Wilson syndrome. Am J Med Genet Part A 2012; 158A: 358–366. 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8Academic Journal
Authors: Mukhin K.Y., Pylaeva O.A., Bobylova M.Y., Chadaev V.A.
Source: Russian Journal of Child Neurology; Vol 16, No 1-2 (2021); 10-41 ; Русский журнал детской неврологии; Vol 16, No 1-2 (2021); 10-41 ; 2412-9178 ; 2073-8803
Subject Terms: epileptic encephalopathy, developmental encephalopathy, early epileptic encephalopathy, CDKL5 gene, epilepsy, clinical manifestations, diagnosis, therapy, эпилептическая энцефалопатия, энцефалопатия развития, ранняя эпилептическая энцефалопатия, ген CDKL5, эпилепсия, клинические проявления, диагностика, терапия
File Description: application/pdf
Relation: https://rjdn.abvpress.ru/jour/article/view/360/242; https://rjdn.abvpress.ru/jour/article/view/360
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9Academic Journal
Authors: Bobylova M.Y., Konurina O.V., Borovikova N.A., Chadaev V.A.
Source: Russian Journal of Child Neurology; Vol 17, No 2 (2022); 37-46 ; Русский журнал детской неврологии; Vol 17, No 2 (2022); 37-46 ; 2412-9178 ; 2073-8803
Subject Terms: chromosome 1p36 deletion syndrome, epileptic encephalopathy, epilepsy, developmental delay, electroencephalography, video-electroencephalography monitoring, микроделеционный синдром короткого плеча 1 хромосомы 1p36, эпилептическая энцефалопатия, эпилепсия, энцефалопатия развития, электроэнцефалография, видеоэлектроэнцефалографический мониторинг
File Description: application/pdf
Relation: https://rjdn.abvpress.ru/jour/article/view/397/272; https://rjdn.abvpress.ru/jour/article/view/397
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10Academic Journal
Authors: T. M. Khlebodarova, Т. М. Хлебодарова
Contributors: This work was supported by the budget project No. 0259-2021-0009.
Source: Vavilov Journal of Genetics and Breeding; Том 25, № 1 (2021); 92-100 ; Вавиловский журнал генетики и селекции; Том 25, № 1 (2021); 92-100 ; 2500-3259 ; 10.18699/VJ20.677
Subject Terms: эпилептическая энцефалопатия, YAP/TAZ mechanosensor, mTOR, FMRP-dependent translation, complex dynamics, F actin, WAVE regulatory complex, autism spectrum disorders, epileptic encephalopathy, механосенсор YAP/TAZ, FMRP-зависимая трансляция, сложная динамика, F-актин, WAVE регуляторный комплекс, расстройства аутистического спектра
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Regulation of the actin cytoskeleton in dendritic spines. Adv. Exp. Med. Biol. 2012;970:81-95. DOI 10.1007/978-3-7091-0932-8_4.; Porokhovnik L. Individual copy number of ribosomal genes as a factor of mental retardation and autism risk and severity. Cells. 2019; 8(10):1151. DOI 10.3390/cells8101151.; Porokhovnik L.N., Lyapunova N.A. Dosage effects of human ribosomal genes (rDNA) in health and disease. Chromosome Res. 2019; 27(1-2):5-17. DOI 10.1007/s10577-018-9587-y.; Pramparo T., Pierce K., Lombardo M.V., Carter Barnes C., Marinero S., Ahrens-Barbeau C., Murray S.S., Lopez L., Xu R., Courchesne E. Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practice. JAMA Psychiatry. 2015;72:386-394. DOI 10.1001/jamapsychiatry.2014.3008.; Pyronneau A., He Q., Hwang J.Y., Porch M., Contractor A., Zukin R.S. Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome. Sci. Signal. 2017;10(504):eaan0852. DOI 10.1126/scisignal.aan0852.; Reddy P., Deguchi M., Cheng Y., Hsueh A.J. Actin cytoskeleton regulates Hippo signaling. PLoS One. 2013;8(9):e73763. DOI 10.1371/journal.pone.0073763.; Rex C.S., Chen L.Y., Sharma A., Liu J., Babayan A.H., Gall C.M., Lynch G. Different Rho GTPase-dependent signaling pathways initiate sequential steps in the consolidation of long-term potentiation. J. Cell Biol. 2009;186(1):85-97. DOI 10.1083/jcb.200901084.; Rosenberg T., Gal-Ben-Ari S., Dieterich D.C., Kreutz M.R., Ziv N.E., Gundelfinger E.D., Rosenblum K. The roles of protein expression in synaptic plasticity and memory consolidation. Front. Mol. Neurosci. 2014;7:86. DOI 10.3389/fnmol.2014.00086.; Santini E., Huynh T.N., Klann E. Mechanisms of translation control underlying long-lasting synaptic plasticity and the consolidation of long-term memory. Prog. Mol. Biol. Transl. Sci. 2014;122:131-167. DOI 10.1016/B978-0-12-420170-5.00005-2.; Schaks M., Reinke M., Witke W., Rottner K. Molecular dissection of neurodevelopmental disorder-causing mutations in CYFIP2. Cells. 2020;9(6):1355. DOI 10.3390/cells9061355.; Schaks M., Singh S.P., Kage F., Thomason P., Klünemann T., Steffen A., Blankenfeldt W., Stradal T.E., Insall R.H., Rottner K. Distinct interaction sites of RAC GTPase with WAVE regulatory complex have non-redundant functions in vivo. Curr. Biol. 2018;28(22): 3674-3684.e6. DOI 10.1016/j.cub.2018.10.002.; Seo J., Kim J. Regulation of Hippo signaling by actin remodeling. BMB Rep. 2018;51(3):151-156. DOI 10.5483/bmbrep.2018.51.3.012.; Sharma A., Hoeffer C.A., Takayasu Y., Miyawaki T., McBride S.M., Klann E., Zukin R.S. Dysregulation of mTOR signaling in fragile X syndrome. J. Neurosci. 2010;30(2):694-702. DOI 10.1523/JNEUROSCI.3696-09.2010.; Suzuki Y., Lu M., Ben-Jacob E., Onuchic J.N. Periodic, quasi-periodic and chaotic dynamics in simple gene elements with time delays. Sci. Rep. 2016;6:21037. DOI 10.1038/srep21037.; Tapon N., Hall A. Rho, Rac and Cdc42 GTPases regulate the organization of the actin cytoskeleton. Curr. Opin. Cell Biol. 1997;9(1): 86-92. DOI 10.1016/s0955-0674(97)80156-1.; Totaro A., Panciera T., Piccolo S. YAP/TAZ upstream signals and downstream responses. Nat. Cell Biol. 2018;20(8):888-899. DOI 10.1038/s41556-018-0142-z.; Trifonova E.A., Khlebodarova T.M., Gruntenko N.E. Molecular mechanisms of autism as a form of synaptic dysfunction. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov Journal of Genetics and Breeding. 2016;20(6):959-967. DOI 10.18699/VJ16.217. (in Russian); Trifonova E.A., Khlebodarova T.M., Gruntenko N.E. Molecular mechanisms of autism as a form of synaptic dysfunction. Russ. J. Genet.: Appl. Res. 2017;7(8):869-877.; Troca-Marin J.A., Alves-Sampaio A., Montesinos M.L. Deregulated mTOR-mediated translation in intellectual disability. Prog. Neurobiol. 2012;96(2):268-282. DOI 10.1016/j.pneurobio.2012.01.005.; Tumaneng K., Schlegelmilch K., Russell R.C., Yimlamai D., Basnet H., Mahadevan N., Fitamant J., Bardeesy N., Camargo F.D., Guan K.L. YAP mediates crosstalk between the Hippo and PI(3) K–TOR pathways by suppressing PTEN via miR-29. Nat. Cell Biol. 2012;14(12):1322-1329. DOI 10.1038/ncb2615.; Won H., Mah W., Kim E. Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. Front. Mol. Neurosci. 2013;6:19. DOI 10.3389/fnmol.2013.00019.; Wong M. Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies. Epilepsia. 2010;51(1):27-36. DOI 10.1111/j.1528-1167.2009.02341.x.; Wostyn P. Intracranial pressure and Alzheimer’s disease: a hypothesis. Med. Hypotheses. 1994;43(4):219-222. DOI 10.1016/0306-9877(94)90069-8.; Yu F.X., Zhao B., Guan K.L. Hippo pathway in organ size control, tissue homeostasis, and cancer. Cell. 2015;163(4):811-828. DOI 10.1016/j.cell.2015.10.044.; Zamboni V., Jones R., Umbach A., Ammoni A., Passafaro M., Hirsch E., Merlo G.R. Rho GTPases in intellectual disability: from genetics to therapeutic opportunities. Int. J. Mol. Sci. 2018;19:1821. DOI 10.3390/ijms19061821.; Zhang Y., Lee Y., Han K. Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy. BMB Rep. 2019;52(5):304-311. DOI 10.5483/BMBRep.2019.52.5.097.; Zhou J., Parada L.F. PTEN signaling in autism spectrum disorders. Curr. Opin. Neurobiol. 2012;22(5):873-879. DOI 10.1016/j.conb.2012.05.004.; Zhu T., Ma Z., Wang H., Jia X., Wu Y., Fu L., Li Z., Zhang C., Yu G. YAP/TAZ affects the development of pulmonary fibrosis by regulating multiple signaling pathways. Mol. Cell. Biochem. 2020; 475(1-2):137-149. DOI 10.1007/s11010-020-03866-9.; Zukin R.S., Richter J.D., Bagni C. Signals, synapses, and synthesis: how new proteins control plasticity. Front. Neural Circuits. 2009; 3:14. DOI 10.3389/neuro.04.014.2009.; Zweier M., Begemann A., McWalter K., Cho M.T., Abela L., Banka S., Behring B., Berger A., Brown C.W., Carneiro M., Chen J., Cooper G.M. Deciphering Developmental Disorders (DDD) Study, Finnila C.R., Guillen Sacoto M.J., Henderson A., Hüffmeier U., Joset P., Kerr B., Lesca G., Leszinski G.S., McDermott J.H., Meltzer M.R., Monaghan K.G., Mostafavi R., Õunap K., Plecko B., Powis Z., Purcarin G., Reimand T., Riedhammer K.M., Schreiber J.M., Sirsi D., Wierenga K.J., Wojcik M.H., Papuc S.M., Steindl K., Sticht H., Rauch A. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur. J. Hum. Genet. 2019;27(5):747-759. DOI 10.1038/s41431-018-0331-z.; https://vavilov.elpub.ru/jour/article/view/2921
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11Academic Journal
Authors: N. G. Lyukshina, A. A. Sharkov, E. N. Tolmacheva, Н. Г. Люкшина, А. А. Шарков, Е. Н. Толмачева
Source: Russian Journal of Child Neurology; Том 16, № 1-2 (2021); 69-75 ; Русский журнал детской неврологии; Том 16, № 1-2 (2021); 69-75 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2021-16-1-2
Subject Terms: задержка развития, epileptic encephalopathy, epilepsy, genetics, hypotonia, developmental delay, эпилептическая энцефалопатия, эпилепсия, генетика, гипотония
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Relation: https://rjdn.abvpress.ru/jour/article/view/364/246; Белоусова Е.Д., Заваденко Н.Н., Холин А.А., Шарков A.A. Новые международные классификации эпилепсий и эпилептических приступов Международной лиги по борьбе с эпилепсией (2017). Журнал неврологии и психиатрии им. С.С. Корсакова 2017;117(7):99–106. [Belousova E.D., Zavadenko N.N., Kholin A.A., Sharkov A.A. New international classifications of epilepsy and epileptic seizures of the International League Against Epilepsy (2017). Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2017;117(7):99–106. (In Russ.)].; Мухин К.Ю., Пылаева О.А. Формирование когнитивных и психических нарушений при эпилепсии: роль различных факторов, связанных с заболеваниеми лечением (обзор литературы и описания клинических случаев). Русский журнал детской неврологии 2017;3(12):7–33. [Mukhin K.Yu., Pylaeva O.A. Development of cognitive and mental disorders in epilepsy: the role of various factors associated with the disease and treatment (literature review and case reports). Russkiy zhurnal detskoy nevrologii = Russian Journal of Child Neurology 2017;12(3):7–33. (In Russ.)].; Hamdan F.F., Myers C.T., Cossette P. et al. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet 2017;101(5):664–85. DOI:10.1016/j.ajhg.2017.09.008.; Higashimori A., Dong Yu., Zhang Y. et al. Forkhead box F2 suppresses gastric cancer through a novel FOXF2-IRF2BPL-bCatenin signaling axis. Cancer Research 2018;7(78):1643–56.; Marcogliese P., Shashi V., Spillmann R.C. et al. Loss-of-function in IRF2BPL is associated with neurological phenotypes. BioRxiv 2018:322495.; McRae J.F., Clayton S., Fitzgerald T.W. et al. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017;7642(542):433–8.; Scheffer I.E., Liao J. Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”. Eur J Paediatr Neurol 2020;24:11–4.; Skorvanek M., Dusek P., Rydzanicz M. et al. Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype? Parkinsonism Relat Disord 2019;62:239–41. DOI:10.1016/j.parkreldis.2019.01.017.; Tran Mau-Them F., Guibaud L., Duplomb L. et al. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genet Med 2019;4(21):1008–14.; https://rjdn.abvpress.ru/jour/article/view/364
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12Academic Journal
Authors: M. Yu. Bobylova, M. O. Abramov, A. V. Kovalskaya, A. A. Alikhanov, K. Yu. Mukhin, М. Ю. Бобылова, М. О. Абрамов, А. В. Ковальская, А. А. Алиханов, К. Ю. Мухин
Source: Russian Journal of Child Neurology; Том 15, № 3-4 (2020); 78-91 ; Русский журнал детской неврологии; Том 15, № 3-4 (2020); 78-91 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2020-15-3-4
Subject Terms: видеоэлектроэнцефалографический мониторинг, unbalanced inversion of chromosome 4, chromosome 18, Wolf–Hirschhorn syndrome, epileptic encephalopathy, video electroencephalographic monitoring, несбалансированная инверсия хромосомы 4, хромосома 18, синдром Вольфа–Хиршхорна, эпилептическая энцефалопатия
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Relation: https://rjdn.abvpress.ru/jour/article/view/354/240; Beaujard M.P., Jouannic J.M., Bessières B. et al. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf–Hirschhorn syndrome phenotype. Prenat Diagn 2005;25(6):451–5.; Chen C.P., Su Y.N., Chen Y.Y. et al. Wolf–Hirschhorn (4p–) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion. Taiwan J Obstet Gynecol 2011;50(4):506–11. DOI:10.1016/j.tjog.2011.10.019.; Hirsch B., Baldinger S. Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred. Am J Med Genet 1993;45(1):5–8.; Malvestiti F., Benedicenti F., De Toffol S. et al. Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes. Case Rep Genet 2013;2013:306098. DOI:10.1155/2013/306098.; Paskulin G.A., Riegel M., Cotter P.D. et al. Inv dup del(4) (:p13→p16.3::p16.3→qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome. Am J Med Genet A 2009;149A(6):1302–7. DOI:10.1002/ajmg.a.32888.; Puig M., Casillas S., Villatoro S., Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics 2015;14(5):369–79. DOI:10.1093/bfgp/elv020.; Stipoljev F., Stanojevic M., Kurjak A. Familial pericentric inversion of chromosome 4: inv(4)(p16.1q12). Clin Genet 2002:61:386–8.; Verrotti A., Carelli A., di Genova L., Striano P. Epilepsy and chromosome 18 abnormalities: A review. Seizure 2015;32:78–8. DOI:10.1016/j.seizure.2015.09.013.; Villa A., Urioste M., Carrascosa M.C. et al. Pericentric inversions of chromosome 4: report of a new family and review of the literature. Clin Genet 1995;48(5):255–60.; Zollino M., Murdolo M., Marangi G. et al. On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Clin Genet C 2008;148(4):257–69.; https://rjdn.abvpress.ru/jour/article/view/354
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13Academic Journal
Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, N. N. Zavadenko, A. G. Prityko, Т. В. Кожанова, С. С. Жилина, Т. И. Мещерякова, Е. Г. Лукьянова, К. В. Осипова, С. О. Айвазян, Н. Н. Заваденко, А. Г. Притыко
Source: Medical Genetics; Том 19, № 11 (2020); 47-53 ; Медицинская генетика; Том 19, № 11 (2020); 47-53 ; 2073-7998
Subject Terms: расстройства аутистического спектра, epileptic encephalopathy, targeted exome sequencing, autism spectrum disorder, эпилептическая энцефалопатия, таргетное экзомное секвенирование
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Relation: https://www.medgen-journal.ru/jour/article/view/1795/1428; Российское общество психиатров. Расстройство аутистического спектра: диагностика, лечение, наблюдение. Клинические рекомендации (протокол лечения) - 2015. - 50 c. http//www: psychiatry.ru; Chaste P., Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012;14(3):281-292.; Liao H.M., Gau S.S., Tsai W.C., Fang JS., Su Y.C., Chou M.C., Liu S.K., Chou W.J., Wu Y.Y., Chen C.H. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan. Am J Med Genet B Neuropsychiatr Genet. 2013;162B(7):734-741.; Berg J.M., Geschwind D.H. Autism genetics: searching for specificity and convergence. Genome Biol. 2012;13:247.; Iossifov I., O’Roak B.J., Sanders S.J. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;525 (7526):216-221.; Helsmoortel C., Vulto-van Silfhout A.T., Coe B.P., et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380e4.; Krajewska-Walasek M., Jurkiewicz D., PiekutowskaAbramczuk D., et al. Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. Am J Med Genet A. 2016;170:1647e50.; Coe B.P., Witherspoon K., Rosenfeld J.A., et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063e71.; De Rubeis S., He X., Goldberg A.P., et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209e15.; Pescosolido M.F., Schwede M., Johnson Harrison A., et al. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 2014;51:587e9.; Vandeweyer G., Helsmoortel C., Van Dijck A., et al. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C. 2014;166:315e26.; Pascolini G., Agolini E., Majore S., Novelli A., Grammatico P., Digilio M.C. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Eur J Paediatr Neurol. 2018 May;22(3):552-557.; Zamostiano R., Pinhasov A., Gelber E., et al. Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem. 2001;276:708e14.; Magen I., Gozes I. Davunetide: peptide therapeutic in neurological disorders. Curr Med Chem. 2014;21:2591e8.; Pinhasov A., Mandel S., Torchinsky A. et al. Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Brain Res Dev Brain Res. 2003;144:83e90.; Takenouchi T., Miwa T., Sakamoto Y., Sakaguchi Y., Uehara T., Takahashi T., et al. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. Am J Med Genet A. 2017;173:1631e4.; Verloes A., Bremond-Gignac D., Isidor B., et al. Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, a delineation of two new BMR syndromes, one xlinked and one autosomal recessive. Am J Med Genet. 2006;140:1285e96.; Clayton-Smith J., O’Sullivan J., Daly S., et al. Whole-exomesequencing identifies mutation in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011;89:675e81.; Vulto-van Silfhout A.T., De Vries B.B.A., van Bon B.W.M., et al. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013;92:401e6.
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14Academic Journal
Source: Modern Pediatrics. Ukraine; No. 4(116) (2021): Modern Pediatrics. Ukraine; 56-75
Современная педиатрия. Украина; № 4(116) (2021): Современная педиатрия. Украина; 56-75
Сучасна педіатрія. Україна; № 4(116) (2021): Сучасна педіатрія. Україна; 56-75Subject Terms: епілептична енцефалопатія, новонароджений, treatment, review, лечение, епілепсія, огляд, 3. Good health, протиепілептичні препарати, обзор, epileptic encephalopathy, противоэпилептические препараты, newborn, эпилепсия, лікування, новорожденный, epilepsy, эпилептическая энцефалопатия, antiepileptic drugs
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Access URL: http://mpu.med-expert.com.ua/article/view/238435
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15Academic Journal
Source: Modern Pediatrics. Ukraine; No. 3(115) (2021): Modern pediatrics. Ukraine; 37-50
Современная педиатрия. Украина; № 3(115) (2021): Современная педиатрия. Украина; 37-50
Сучасна педіатрія. Україна; № 3(115) (2021): Сучасна педіатрія. Україна; 37-50Subject Terms: епілептична енцефалопатія, генетичне обстеження, новонароджений, diagnosis, review, диагностика, генетическое обследование, епілепсія, огляд, metabolic defects, genetic examination, діагностика, дефекти метаболізму, обзор, epileptic encephalopathy, newborn, эпилепсия, новорожденный, дефекты метаболизма, epilepsy, эпилептическая энцефалопатия
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Access URL: http://mpu.med-expert.com.ua/article/view/233945
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16Academic Journal
Authors: Dadali E.L., Akimova I.A., Konovalov F.A., Shatalov P.A., Krasnenko A.Y., Strelnikov V.V., Ampleeva M.A.
Contributors: The study was performed as part of the state task of the Ministry of Education and Science of Russia to carry out research work in 2019, Исследование проведено в рамках государственного задания Минобрнауки России на выполнение научно-исследовательских работ в 2019 г
Source: Russian Journal of Child Neurology; Vol 14, No 3 (2019); 28-36 ; Русский журнал детской неврологии; Vol 14, No 3 (2019); 28-36 ; 2412-9178 ; 2073-8803
Subject Terms: early infantile epileptic encephalopathy, epileptic seizures, CDKL5, ранняя эпилептическая энцефалопатия, эпилептические приступы
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Relation: https://rjdn.abvpress.ru/jour/article/view/307/212; https://rjdn.abvpress.ru/jour/article/view/307
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17Academic Journal
Authors: Olshanskaya A.S., Dyuzhakova A.V., Shnayder N.A., Dmitrenko D.V.
Source: Russian Journal of Child Neurology; Vol 14, No 2 (2019); 35-41 ; Русский журнал детской неврологии; Vol 14, No 2 (2019); 35-41 ; 2412-9178 ; 2073-8803
Subject Terms: Cohen syndrome, infantile epileptic encephalopathy, neuro-oculocutaneous syndromes, differential diagnosis, синдром Коэна, младенческая эпилептическая энцефалопатия, нейроокулокожные синдромы, дифференциальная диагностика
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Relation: https://rjdn.abvpress.ru/jour/article/view/296/205; https://rjdn.abvpress.ru/jour/article/view/296
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18Academic Journal
Authors: Kuramshina, D. V., Nekrasova, T. P., Nevmerzhitskaya, K. S., Курамшина, Д. В., Некрасова, Т. П., Невмержицкая, К. С.
Source: Сборник статей
Subject Terms: EPILEPTIC ENCEPHALOPATHY, DEXAMETHASONE, METHYLPREDNISOLONE, CHILDREN, ЭПИЛЕПТИЧЕСКАЯ ЭНЦЕФАЛОПАТИЯ, МЕТИЛПРЕДНИЗОЛОН, ДЕКСАМЕТАЗОН, ДЕТИ
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Relation: Актуальные вопросы современной медицинской науки и здравоохранения: сборник статей IV Международной научно-практической конференции молодых учёных и студентов, IV Всероссийского форума медицинских и фармацевтических вузов «За качественное образование», (Екатеринбург, 10-12 апреля 2019): в 3-х т. - Екатеринбург: УГМУ, CD-ROM.; http://elib.usma.ru/handle/usma/4093
Availability: http://elib.usma.ru/handle/usma/4093
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19Academic Journal
Authors: Borovkova, N. A., Malov, A. G., Kalashnikova, T. P., Brokhin, L. Yu., Боровкова, Н. А., Малов, А. Г., Калашникова, Т. П., Брохин, Л. Ю.
Subject Terms: MUTATION IN THE SCN2A, EPILEPTIC SEIZURES, EARLY EPILEPTIC ENCEPHALOPATHY, DEMENTIA, МУТАЦИЯ В ГЕНЕ SCN2A, ЭПИЛЕПТИЧЕСКИЕ ПРИПАДКИ, РАННЯЯ ЭПИЛЕПТИЧЕСКАЯ ЭНЦЕФАЛОПАТИЯ, ДЕМЕНЦИЯ
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Relation: Уральский медицинский журнал. 2019. Т. 174, № 6.; http://elib.usma.ru/handle/usma/12604
Availability: http://elib.usma.ru/handle/usma/12604
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20Academic Journal
Authors: K. V. Firsov, A. S. Kotov, К. В. Фирсов, А. С. Котов
Source: Neurology, Neuropsychiatry, Psychosomatics; Vol 11, No 4 (2019); 77-81 ; Неврология, нейропсихиатрия, психосоматика; Vol 11, No 4 (2019); 77-81 ; 2310-1342 ; 2074-2711 ; 10.14412/2074-2711-2019-4
Subject Terms: магнитно-резонансная томография, catastrophic epilepsy, epileptic encephalopathy, remission, recurrence, diagnosis, treatment, prognosis, electroencephalography, magnetic resonance imaging, катастрофическая эпилепсия, эпилептическая энцефалопатия, ремиссия, рецидив, диагностика, лечение, прогноз, электроэнцефалография
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