Εμφανίζονται 1 - 14 Αποτελέσματα από 14 για την αναζήτηση '"симптоматическая фокальная эпилепсия"', χρόνος αναζήτησης: 0,63δλ Περιορισμός αποτελεσμάτων
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    Academic Journal

    Συνεισφορές: The work was supported by the Kazan Federal University Strategic Academic Leadership Program (Volga Region) (PRIORITY-2030)., Работа выполнена за счет средств Программы стратегического академического лидерства Казанского (Приволжского) федерального университета» (Приоритет-2030).

    Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 70, № 5 (2025); 84-90 ; Российский вестник перинатологии и педиатрии; Том 70, № 5 (2025); 84-90 ; 2500-2228 ; 1027-4065

    Περιγραφή αρχείου: application/pdf

    Relation: https://www.ped-perinatology.ru/jour/article/view/2279/1649; Berends M.J., Tan-Sindhunata G., Leegte B., van Essen A.J. Phenotypic variability of cat-eye syndrome. Genet Couns 2001; 12(1): 23–34; Schachenmann G., Schmid W., Fraccaro M., Mannini A., Tiepolo L., Perona G.P., et al. Chromosomes in Coloboma and Anal Atresia. Lancet. 1965; 2(7406): 290; Jedraszak G., Jobic F., Receveur A., Bilan F., Gilbert-Dussardier B., Tiffany B., et al. Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases. American journal of medical genetics 2024; Part A, 194(4): e63476. DOI:10.1002/ajmg.a.63476; Sharma D., Murki S., Pratap T., Vasikarla M. Cat eye syndrome. Case Reports. 2014; May 19; bcr2014203923. DOI:10.1136/bcr-2014-203923; Verri A., Maffoni M. Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study. Clinical Cases and Reviews in Epilepsy 2017; 2: 15. DOI:10.11138/ccre/2017.2.1.015; Rosias P.R., Sijstermans J.M., Theunissen P.M., Pulles Heintzberger C.F., De Die-Smulders C.E., Engelen J.J., et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns. 2001; 12(3): 273–282; Mears A.J., el-Shanti H., Murray J.C., McDermid H.E., Patil S. R. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. American Journal of Human Genetics 1995; 57(3): 667–673; Meins M., Burfeind P., Motsch S., Trappe R., Bartmus D., Langer S., et al. Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. Journal of Medical Genetics 2003; 40(5): e62). DOI:10.1136/jmg.40.5.e62; Cervenka J., Hansen C.A., Franciosi R.A., Gorlin R.J. Trisomy 22 with’cat eye’anomaly. Journal of Medical Genetics. 1977; 14(4): 288–290. DOI:10.1136/jmg.14.4.288; Haltrich I., Pikó H., Kiss E., Tóth Z., Karcagi V., Fekete G. A de novo atypical ring sSMC (22) characterized by array CGH in a boy with cat-eye syndrome. Molecular cytogenetics. 2014; 7: 1–8. DOI:10.1186/1755-8166-7-37; Knijnenburg J., van Bever Y., Hulsman L.O., van Kempen C.A., Bolman G.M., van Loon R.L., et al. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. European Journal of Human Genetics. 2012; 20(9): 986–989. DOI:10.1038/ejhg.2012.43; Vervoort L., Vermeesch J.R. The 22q11.2 Low Copy Repeats. Genes (Basel). 2022; 13(11): 2101. DOI:10.3390/genes13112101; Zinkstok J.R., Boot E., Bassett A.S., Hiroi N., Butcher N.J., Vingerhoets C., et al. Neurobiological perspective of 22q11.2 deletion syndrome. Lancet Psychiatry. 2019; 6(11) :951–960. DOI:10.1016/S2215-0366(19)30076-8; Wang Y., Zhang P., Chai Y., Zang, W. Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family. Molecular cytogenetics 2023; 16(1): 28. DOI:10.1186/s13039-023-00660-2; Banting G.S., Barak O., Ames T.M., Burnham A.C., Kardel M.D. et al. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. Hum Mol Genet. 2005; 14(4): 513–524. DOI:10.1093/hmg/ddi048; Valvo G., Novara F., Brovedani P., Ferrari A.R., Guerrini R., Zuffardi O., Sicca F. 22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. Epilepsy Behav. 2012; 25(4): 567–572. DOI:10.1016/j.ye-beh.2012.09.035; Eaton C.B., Thomas R.H., Hamandi K., Payne G.C., Kerr M.P. Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders. Epilepsia 2019; 60(5): 818–829. DOI:10.1111/epi.14722; Zhou Y., Gunput R.A., Adolfs Y., Pasterkamp R.J. MICALs in control of the cytoskeleton, exocytosis, and cell death. Cell Mol Life Sci. 2011; 68(24): 4033–4044. DOI:10.1007/s00018-011-0787-2; Addis L., Rosch R.E., Valentin A., Makoff A., Robinson R., Everett K.V., et al. Analysis of rare copy number variation in absence epilepsies. Neurol Genet. 2016; 2(2):e56. DOI:10.1212/NXG.0000000000000056; Lo-Castro A., Galasso C., Cerminara C., El-Malhany N., Benedetti S., Nardone A.M. et al. Association of syndromic mental retardation and autism with 22q11.2 duplication. Neuropediatrics. 2009; 40(3): 137–140. DOI:10.1055/s-0029-1237724

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    Academic Journal

    Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 60, № 5 (2015); 103-112 ; Российский вестник перинатологии и педиатрии; Том 60, № 5 (2015); 103-112 ; 2500-2228 ; 1027-4065 ; undefined

    Περιγραφή αρχείου: application/pdf

    Relation: https://www.ped-perinatology.ru/jour/article/view/164/205; Van Breemen M.S., Wilms E.B., Vecht C.J. Epilepsy in patients with brain tumours: epidemiology, mechanisms, and management. Lancet Neurol 2007; 6: 421-430.; Roberto G., Alessandro C, Francesco F. et al. Epilepsy associated with supratentorial brain tumors under 3 years of life. Epilepsy Res 2009; 87: 184-189.; Алиханов А.А., Генералов В.О., Демушкина А.А., Пере-пелова Е.М., Шимановский Н.Л., Чадаев В.А. Визуализация эпилептогенных поражений головного мозга у детей. М: Видар 2009; 199-219. (Alikhanov A.A., Generalov V.O., Demushkina A.A., Perepelova E.M., Shimanovskiy N.L., Chadaev V.A. Visualization of the epileptogenic damages of a brain in children. Moscow: Vi-dar2009: 199-219.); Barcovich A.J, Kuzniecky R.I., Jackson G.D., Guerrini R., Dobyns W.B. A develop-mental and genetic classification for malformations of cortical development. Neurology 2005; 65: 1873-1887.; Van Veelen M.L., Avezaat C.J., Kros J.M. et al. Supratentorial low grade astrocytoma: prognostic factors, dedifferentiation, and the issue of early versus late surgery. J Neurol Neurosurg Psychiatry 1998; 64: 581-587.; Корниенко В.Н., Пронин И.Н. Диагностическая нейрора-диология. Атлас. Издательство ИП «АндрееваТ.М.» 2006; 455—599. (Kornienko V.N., Pronin I.N. Diagnostic neurora-diology. Atlas. IP «AndreevaT.M.» 2006; 455-599.); Urbach H. MRI of long-term epilepsy-associated tumors. Se-min Ultrasound CT MRI 2008; 29: 1: 40-46.; Luyken C, Blumcke I., Fimmers R. et al. Supratentorial gan-gliogliomas: histopathologic grading and tumor recurrence in 184 patients with a median follow-up of 8 years. Cancer 2004; 101: 146-155.; Villarejo F., Alvarez-Sastre C, Martinez-Quinones J. et al. Dysembryoplastic neuroepithelial tumors. Revista de Neurologia 1999; 29: 9: 810-814.; FernandezC, GirardN., Paz, ParedesF. etal. The usefulness of MRI in the diagnosis of disembryoplastic neuroepithelial tumor in children: a study of 14 cases. AJNR 2003; 24: 829-834.; Stanescu Cosson R., Varlet P., Beuvon F. et al. Disembryoplastic neuroepithelial tumors: CT, MR findings and imaging follow-up: a study of 53 cases. J Neuroradiol 2001; 28: 230-240.; Barcovich A.J. Congenital malformations of the brain and skull. In: A.J. Barcovich (ed.). Pediatric neuroimaging 4Th ed. Philadelphia: Lippincott, Williams & Wilkins, 2005; 291-439.; Takahashi A., Hong S.C., Seo D.W. et al. Frequent association of cortical dysplasia in dysembryoplastic neuroepithelial tumor treated by epilepsy surgery. Surgical Neurology 2005; 64: 5: 419-427.; Provenzflle G.M., Mukundan S., DewhirstM. The role of blood-brain permeability in brain tumors imaging and therapeutics. Am J Roentgenol 2005; 185: 763-767.; Aronica E., Leenstra S., van Veelen C.W. et al. Glioneuronal tumors and medically intractable epilepsy: a clinical study with long-term follow-up of seizure outcome after surgery. Epilepsy Res 2001; 43: 179-191.; Ogiwara H., Nordli D.R., DiPatriA.J. et al. Pediatric epileptogenic gangliogliomas: seizure outcome and surgical results. J Neurosurg Pediat 2010; 5: 3: 271-276.; Selch M. Gangliogliomas: experience with 3 patients and review of the literatute. Am J Clin One 1998; 21: 557-564.; MorrisH.H., MatkovicZ, EstesM.L. etal. Ganglioglioma and intractable epilepsy: clinical and neurophysiologic features and predictors of outcome after surgery. Epilepsia 1998; 39: 3: 307—313.; undefined

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    Academic Journal

    Συνεισφορές: «Санофи-авентис груп»

    Πηγή: Russian Journal of Child Neurology; Vol 10, No 1 (2015); 4-15 ; Русский журнал детской неврологии; Vol 10, No 1 (2015); 4-15 ; 2412-9178 ; 2073-8803

    Περιγραφή αρχείου: application/pdf

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    Academic Journal

    Συγγραφείς: Salnikova, V.V.

    Πηγή: INTERNATIONAL NEUROLOGICAL JOURNAL; № 1.55 (2013); 88-92
    МЕЖДУНАРОДНЫЙ НЕВРОЛОГИЧЕСКИЙ ЖУРНАЛ; № 1.55 (2013); 88-92
    МІЖНАРОДНИЙ НЕВРОЛОГІЧНИЙ ЖУРНАЛ; № 1.55 (2013); 88-92

    Περιγραφή αρχείου: application/pdf

    Σύνδεσμος πρόσβασης: http://inj.zaslavsky.com.ua/article/view/85637

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    Electronic Resource

    Additional Titles: Характеристика та динаміка електроенцефалографічних показників у дітей із симптоматичною фокальною епілепсією
    Characteristics and Dynamics of Electroencephalographic Parameters in Children with Symptomatic Focal Epilepsy

    Πηγή: INTERNATIONAL NEUROLOGICAL JOURNAL; № 1.55 (2013); 88-92; МЕЖДУНАРОДНЫЙ НЕВРОЛОГИЧЕСКИЙ ЖУРНАЛ; МІЖНАРОДНИЙ НЕВРОЛОГІЧНИЙ ЖУРНАЛ; 2307-1419; 2224-0713