Showing 1 - 20 results of 48 for search '"фармакорезистентная эпилепсия"', query time: 0.74s Refine Results
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    Academic Journal

    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

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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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    Academic Journal

    Contributors: Not specified., Отсутствует.

    Source: Pediatric pharmacology; Том 21, № 2 (2024); 131-141 ; Педиатрическая фармакология; Том 21, № 2 (2024); 131-141 ; 2500-3089 ; 1727-5776

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    Relation: https://www.pedpharma.ru/jour/article/view/2455/1599; Pânzaru M-C, Popa S, Lupu A, et al. Genetic heterogeneity in corpus callosum agenesis. Front Genet. 2022;13:958570. doi: https://doi.org/10.3389/fgene.2022.958570; Devi R, Chaurasia S, Priyadarshi M, et al. Proud Syndrome: A Rare Cause of Corpus Callosum Agenesis. Cureus. 2023;15(6):e40671. doi: https://doi.org/10.7759/cureus.40671; Proud VK, Levine C, Carpenter NJ. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet. 1992;43(1-2):458–466. doi: https://doi.org/10.1002/ajmg.1320430169; Иванова И.В., Мухин К.Ю., Пылаева О.А. и др. Мутации в гене ARX: клинические, электроэнцефалографические и нейровизуализационные особенности у 3 пациентов // Русский журнал детской неврологии. — 2017. — Т 12. — № 3. — С. 58–67. — doi: https://doi.org/10.17650/2073-8803-2017-12-3-58-67; Ruggieri M, Pavone P, Scapagnini G, et al. The aristaless (Arx) gene: one gene for many “interneuronopathies”. Front Biosci (Elite Ed). 2010;2(2):701–710. doi: https://doi.org/10.2741/e130. PMID: 20036914; Strømme P, Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002;30(4):441–445. doi: https://doi.org/10.1038/ng862; Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless-related homeobox gene, ARX. Brain Dev. 2002;24(5):266–268. doi: https://doi.org/10.1016/s0387-7604(02)00079-7; Poeta L, Malacarne M, Padula A, et al. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. Int J Mol Sci. 2022;23(6):3084. doi: https://doi.org/10.3390/ijms23063084; Marsh ED, Nasrallah MP, Walsh C, et al. Developmental interneuron subtype deficits after targeted loss of Arx. BMC Neurosci. 2016;17(1):35. doi: https://doi.org/10.1186/s12868-016-0265-8; Lim Y, Cho IT, Golden JA, Cho G. Generation of FLAG-tagged Arx knock-in mouse model. Genesis. 2022;60(6-7):e23479. doi: https://doi.org/10.1002/dvg.23479; Friocourt G, John G. Parnavelas GJ. Mutations in ARX result in several defects involving GABAergic neurons. Front Cell Neurosci. 2010;4:4. doi: https://doi.org/10.3389/fncel.2010.00004; Joseph DJ, Von Deimling M, Hasegawa Y, et al. Postnatal Arx transcriptional activity regulates functional properties of PV interneurons. iScience. 2020;24(1)101999. doi: https://doi.org/10.1016/j.isci.2020.101999; Mustafa MI, Murshed NS, Abdelmoneim AH, Makhawi AM. Extensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human ARX Gene associated with EIEE1. Inform Med Unlocked. 2020;21:100447. doi: https://doi.org/10.1016/j.imu.2020.100447; Гузева В.И. Эпилепсия и неэпилептические пароксизмальные состояния у детей. — М.: ООО «Медицинское информационное агентство»; 2007. — 568 с.; Marsh E, Fulp C, Gomez E, et al. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain. 2009;132(Pt 6):1563– 1576. doi: https://doi.org/10.1093/brain/awp107; National Library of Medicine. National Center for Biotechnology Information. ClinVar. Database. Search for ARX. Available online: https://www.ncbi.nlm.nih.gov/clinvar/?term=ARX%5Bgene%5D&redir=gene. Accessed on April 15, 2024.; Kato M, Das S, Petras K, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004;23(2):147–159. doi: https://doi.org/10.1002/humu.10310; Баранов В.С., Кузнецова Т.В., Кащеева Т.К., Иващенко Т.Э. Пренатальная диагностика наследственных болезней. Состояние и перспективы. — 2-е изд., перераб. и доп. — СПб.: ЭхоВектор; 2017. — 471 с.; Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–521. doi: https://doi.org/10.1111/epi.13709; Bayat A, Bayat M, Rubboli G, Møller RS. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes (Basel). 2021;12(7):1051. doi: https://doi.org/10.3390/genes12071051; Wong BKY, Sutton VR. Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet. 2018;178(4):423–431. doi: https://doi.org/10.1002/ajmg.c.31658; Katyayan A, Diaz-Medina G. Epilepsy: Epileptic Syndromes and Treatment. Neurol Clin. 2021;39(3):779–795. doi: https://doi.org/10.1016/j.ncl.2021.04.002; Latzer IT, Blau N, Ferreira CR, Pearl PL. Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Mol GenetMetab. 2023;140(3):107690. doi: https://doi.org/10.1016/j.ymgme.2023.107690; Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков: дифдиагностика и подходы к лечению. — 2-е изд., перераб. и доп. — М.: Литтерра; 2019. — 368 с.; Шевченко А.И. Феномен инактивации Х-хромосомы и заболевания человека // Гены и Клетки. — 2016. — Т. 11. — № 2. — С. 61–68. — doi: https://doi.org/10.23868/gc120579; Renteria-Vazquez T, Brown WS, Kang C, et al. Social Inferences in Agenesis of the Corpus Callosum and Autism: Semantic Analysis and Topic Modeling. J Autism Dev Disord. 2022;52(2):569–583. doi: https://doi.org/10.1007/s10803-021-04957-2; Unterberger I, Bauer R, Walser G, Bauer G. Corpus callosum and epilepsies. Seizure. 2016;37:55–60. doi: https://doi.org/10.1016/j.seizure.2016.02.012; Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, et al. Children with corpus callosum anomalies: clinical characteristics and developmental outcomes. Neurol Neurochir Pol. 2023;57(3):269– 281. doi: https://doi.org/10.5603/PJNNS.a2023.0026; https://www.pedpharma.ru/jour/article/view/2455

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    Academic Journal

    Contributors: The study was performed without external funding, Исследование выполнено без спонсорской поддержки

    Source: Russian Journal of Child Neurology; Том 17, № 4 (2022); 24-32 ; Русский журнал детской неврологии; Том 17, № 4 (2022); 24-32 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2022-17-4

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    Relation: https://rjdn.abvpress.ru/jour/article/view/421/284; Гриненко О. А. Хирургия эпилепсии при многоочаговом поражении головного мозга. Опыт лечения детей с туберозным склерозом / О. А. Гриненко [и др.] // Вестник эпилептологии. – 2014. – (1): 3–16.; Козлова А. Б. Сочетание нейронально-глиальной опухоли и микродисгенезии коры у ребенка с симптоматической эпилепсией / А. Б. Козлова [и др.] // Нейрохирургия и неврология детского возраста. – 2015. – 2 (44): 25–34.; Корсакова М. Б. Сопоставление электрокортикографических паттернов и типов фокальных корковых дисплазий у детей с эпилепсией / М. Б. Корсакова [и др.] // Вопросы нейрохирургии. – 2015. – (5): 19–27. DOI:10.17116/neiro201579519-27; Мухин К. Ю. Фокальные кортикальные дисплазии: клинико-электро-нейровизуализационные характеристики / К. Ю. Мухин // Русский журнал детской неврологии. – 2016. – 11 (2): 8–24. DOI:10.17650/2073-8803-2016-11-2-8-24; Степаненко А. Ю. Кортикальные дисплазии как эпилептогенные поражения / А. Ю. Степаненко // Нейрохирургия. – 2013. – (3): 85–91. URL: https://www.therjn.com/jour/article/view/50; Степаненко А. Ю. Обоснование применения интраоперационной электрокортикографии для определения границ резекции в хирургии височной эпилепсии / А. Ю. Степаненко [и др.] // Нейрохирургия. – 2011. – (3): 43–9.; Al-Ghanem S. S., Al-Oweidi A. S., Tamimi A. F. et al. Anesthesia and electrocorticography for epilepsy surgery: a Jordanian experience. Middle East J Anaesthesiol 2009; 20 (1): 31–7.; Blume W. T., Parrent A. G., Kaibara M. Stereotactic amygdalohippocampotomy and mesial temporal spikes. Epilepsia 1997; 38 (8): 930–6. DOI:10.1111/j.1528-1157.1997.tb01259.x; Blümcke I., Thom M., Aronica E. et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011; 52 (1): 158–74. DOI:10.1111/j.1528-1167.2010.02777.x; Cendes F., Dubeau F., Olivier A. et al. Increased neocortical spiking and surgical outcome after selective amygdalo-hippocampectomy. Epilepsy Res 1993; 16 (3): 195–206. DOI:10.1016/0920-1211(93)90080-q; Ferrier C. H., Alarcon G., Engelsman J. et al. Relevance of residual histologic and electrocorticographic abnormalities for surgical outcome in frontal lobe epilepsy. Epilepsia 2001; 42 (3): 363–71. DOI:10.1046/j.1528-1157.2001.06900.x; Holthausen H., Pieper T., Winkler P. et al. Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages. Childs Nerv Syst 2014; 30 (12): 2015–26. DOI:10.1007/s00381-014-2549-6; Kumar R. M., Koh S., Knupp K. et al. Surgery for infants with catastrophic epilepsy: an analysis of complications and efficacy. Childs Nerv Syst 2015; 31 (9): 1479–91. DOI:10.1007/s00381-015-2759-6; Kuruvilla A., Flink R. Intraoperative electrocorticography in epilepsy surgery: useful or not? Seizure 2003; 12 (8): 577–84.; Luders H. O., Engel J. Jr., Munari C. General principles. In: Surgical Treatment of Epilepsies. New York: Raven Press, 1993. Pp. 137–153.; Luders H. O., Awad I. Conceptual considerations. In: Epilepsy Surgery. New York: Raven Press, 1991. Pp. 51–62.; Penfield W. The epilepsies: with a note on radical therapy. N Engl J Med 1939; 221: 209–18.; Rasmussen T. Characteristics of a pure culture of frontal lobe epilepsy. Epilepsia 1983; 24: 482–93.; San-Juan D., Alonso-Vanegas M. A., Trenado C. et al. Electrocorticographic patterns in epilepsy surgery and long-term outcome. J Clin Neurophysiol 2017; 34 (6): 520–6. DOI:10.1097/WNP.0000000000000407; Sun Y., Wang X., Che N. et al. Clinical characteristics and epilepsy outcomes following surgery caused by focal cortical dysplasia (type IIa) in 110 adult epileptic patients. Exp Ther Med 2017; 13 (5): 2225–34. DOI:10.3892/etm.2017.4315; Yang T., Hakimian S., Schwartz T. H. Intraoperative ElectroCorticoGraphy (ECog): indications, techniques, and utility in epilepsy surgery. Epileptic Disord 2014; 16 (3): 271–9. DOI:10.1684/epd.2014.0675; Tran T. A., Spencer S. S., Javidan M. et al. Significance of spikes recorded on intraoperative electrocorticography in patients with brain tumor and epilepsy. Epilepsia 1997; 38 (10): 1132–9.; Tripathi M., Garg A., Gaikwad S. et al. Intra-operative electrocorticography in lesional epilepsy. Epilepsy Res 2010; 89 (1): 133–41. DOI:10.1016/j.eplepsyres.2009.12.007; Wennberg R., Quesney L. F., Lozano A. et al. Role of electrocorticography at surgery for lesion-related frontal lobe epilepsy. Can J Neurol Sci 1999; 26 (1): 33–9.; Wennberg R., Quesney F., Olivier A. et al. Electrocorticography and outcome in frontal lobe epilepsy. Electroencephalogr Clin Neurophysiol 1998; 106 (4): 357–68. DOI:10.1016/s0013-4694(97)00148-x; Wennberg R., Quesney F., Olivier A. et al. Induction of burst-suppression and activation of epileptiform activity after methohexital and selective amygdalo-hippocampectomy. Electroencephalogr Clin Neurophysiol 1997; 102 (5): 443–51. DOI:10.1016/s0921-884x(97)96052-5. Erratum in: Electroencephalogr Clin Neurophysiol 1998; 106 (3): 265.; Wennberg R. A., Quesney L. F., Villemure J. G. Epileptiform and non-epileptiform paroxysmal activity from isolated cortex after functional hemispherectomy. Electroencephalogr Clin Neurophysiol 1997;102 (5): 437–42. DOI:10.1016/s0921-884x(97)96047-1; https://rjdn.abvpress.ru/jour/article/view/421

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    Academic Journal

    Source: Russian Sklifosovsky Journal "Emergency Medical Care"; Том 10, № 3 (2021); 549-557 ; Журнал им. Н.В. Склифосовского «Неотложная медицинская помощь»; Том 10, № 3 (2021); 549-557 ; 2541-8017 ; 2223-9022

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    Relation: https://www.jnmp.ru/jour/article/view/1218/980; https://www.jnmp.ru/jour/article/view/1218/1071; Ostrom QT, Gittleman H, Liao P, Rouse C, Chen Y, Dowling J, et al. CBTRUS statistical report: Primary brain and central nervous system tumors diagnosed in the United States in 2007–2011. Neuro Oncol. 2014;16(Suppl 4):iv1–63. PMID: 25304271 https://doi.org/10.1093/neuonc/nou223; Walker AE, Robins M, Weinfeld FD. The National Survey of Stroke. Clinical findings. Stroke. 1981;12(2Pt2Suppl 1):I13–44. PMID: 7222164; Hansen A, Pedersen CB, Minet LR, Beier D, Jarden JO, Søgaard K. Hemispheric tumor location and the impact on health¬related quality of life , symptomatology , and functional performance outcomes in patients with glioma: an exploratory cross¬sectional study. Disabil Rehabil. 2019;43(10):1443–1449. PMID: 31553622 https://doi.org/10.1080/09638288.2019.1668486; Huberfeld G, Vecht CJ. Seizures and gliomas ¬ Towards a single therapeutic approach. Nat Rev Neurol. 2016;12(4):204–216. PMID: 26965673 https://doi.org/10.1038/nrneurol.2016.26; Луцук Р.А.,Олюшин В.Е., Ростовцев Д.М., Кальменс В.Я., Маслова Л.Н., Кияшко С.С., и др. Ближайшие результаты повторных операций при продолженном росте злокачественных глиом. Российский нейрохирургический журнал им. А.Л. Поленова. 2017;9(1):43–48.; Blecic S, Rynkowski M, De Witte O, Lefranc F. Glutamate and malignant gliomas, from epilepsia to biological aggressiveness: Therapeutic implications. Bull Cancer. 2013;100(9):829–835. PMID: 23883552 https://doi.org/10.1684/bdc.2013.1781; Campbell SL, Buckingham SC, Sontheimer H. Human glioma cells induce hyperexcitability in cortical networks. Epilepsia. 2012;53(8):1360–1370. PMID: 22709330 https://doi.org/10.1111/j.1528-1167.2012.03557.x; Pallud J, Capelle L, Huberfeld G. Tumoral epileptogenicity: How does it happen? Epilepsia. 2013;54(Suppl9):30–34. PMID: 24328869 https://doi.org/10.1111/epi.12440; Chang EF, Potts MB, Keles GE, Lamborn KR, Chang SM, Barbaro NM, et al. Seizure characteristics and control following resection in 332 patients with low¬grade gliomas. J Neurosurg. 2008;108(2):227–235. PMID: 18240916 https://doi.org/10.3171/JNS/2008/108/2/0227; Stockhammer F, Misch M, Helms H-J, Lengler U, Prall F, von Deimling A, et al. IDH1/2 mutations in WHO grade II astrocytomas associated with localization and seizure as the initial symptom. Seizure. 2012;21(3):194–197. PMID: 22217666 https://doi.org/10.1016/j.seizure.2011.12.007; You G, Sha Z-Y, Yan W, Zhang W, Wang Y-Z, Li S-W, et al. Seizure characteristics and outcomes in 508 Chinese adult patients undergoing primary resection of low grade gliomas: A clinicopathological study.Neuro Oncol. 2012;14(2):230–241. PMID: 22187341 https://doi.org/10.1093/neuonc/nor205; Pallud J, Audureau E, Blonski M, Sanai N, Bauchet L, Fontaine D, et al. Epileptic seizures in diffuse low¬grade gliomas in adults. Brain. 2014;137(Pt2):449–462. PMID: 24374407 https://doi.org/10.1093/brain/awt345; Liubinas SV, D’Abaco GM, Moffat BM, Gonzales M, Feleppa F, Nowell CJ, et al. IDH1 mutation is associated with seizures and protoplasmic subtype in patients with low¬grade gliomas. Epilepsia. 2014;55(9):1438–1443. PMID: 24903073 https://doi.org/10.1111/epi.12662; Wang Y, Qian T, You G, Peng X, Chen C, You Y, et al. Localizing seizuresusceptible brain regions associated with low grade gliomas using voxel-based lesion symptom mapping. Neuro Oncol. 2015;17(2):282–288. PMID: 25031032 https://doi.org/10.1093/neuonc/nou130; Cayuela N, Simó M, Majós C, Rifà-Ros X, Gállego Pérez-Larraya J, Ripollés P, et al. Seizure-susceptible brain regions in glioblastoma: identification of patients at risk. Eur J Neurol. 2018;25(2):387–394. PMID: 29115706 https://doi.org/10.1111/ene.13518; Liang S, Zhang J, Zhang S, Fu X. Epilepsy in adults with supratentorial glioblastoma: Incidence and influence factors and prophylaxis in 184 patients. PLoS One. 2016;11(7):e0158206. PMID: 27438472 https://doi.org/10.1371/journal.pone.0158206; Iuchi T, Hasegawa Y, Kawasaki K, Sakaida T. Epilepsy in patients with gliomas: Incidence and control of seizures. J Clin Neurosci. 2015;22(1):87–91. PMID: 25192590 https://doi.org/10.1016/j.jocn.2014.05.036; Hwang SL, Lieu AS, Kuo TH, Lin CL, Chang CZ, Huang TY, t al. Preoperative and postoperative seizures in patients with astrocytic tumours: Analysis of incidence and influencing factors. J Clin Neurosci. 2001;8(5):426–429. PMID: 11535010 https://doi.org/10.1054/jocn.2000.0825; Hwang SL, Lin CL, Lee KS, Lieu AS, Kuo TH, Chang CZ, et al. Factors influencing seizures in adult patients with supratentorial astrocytic tumors. Acta Neurochir (Wien). 2004;146(6):589–594. PMID: 15168227 https://doi.org/10.1007/s00701-004-0266-8; Мухачева М.В., Бейн Б.Н., Шишкина Е.С. 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    Academic Journal

    Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 2 (2020); 92-98 ; Российский вестник перинатологии и педиатрии; Том 65, № 2 (2020); 92-98 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-2

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