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1Academic Journal
Συγγραφείς: M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya, М. С. Маслов, А. М. Свиридова, М. А. Залевская
Πηγή: 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
Θεματικοί όροι: 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
Συγγραφείς: Olshanskaya A.S., Dyuzhakova A.V., Shnayder N.A., Dmitrenko D.V.
Πηγή: 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
Θεματικοί όροι: 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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3Academic Journal
Συγγραφείς: A. S. Olshanskaya, A. V. Dyuzhakova, N. A. Shnayder, D. V. Dmitrenko, А. С. Ольшанская, А. В. Дюжакова, Н. А. Шнайдер, Д. В. Дмитренко
Πηγή: Russian Journal of Child Neurology; Том 14, № 2 (2019); 35-41 ; Русский журнал детской неврологии; Том 14, № 2 (2019); 35-41 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2019-14-2
Θεματικοί όροι: дифференциальная диагностика, infantile epileptic encephalopathy, neuro-oculocutaneous syndromes, differential diagnosis, младенческая эпилептическая энцефалопатия, нейроокулокожные синдромы
Περιγραφή αρχείου: application/pdf
Relation: https://rjdn.abvpress.ru/jour/article/view/296/205; Левченко О.А., Зинченко Р.А., Лавров А.В. Семейный случай синдрома Коэна: клиническое наблюдение. Вестник РГМУ 2017;4:37–41. DOI:10.24075/brsmu.2017-04-06.; Balikova I., Lehesjoki A.E., de Ravel T.J. et al. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 2009;30(9):845–54. DOI:10.1002/humu.21065.; Caputo R., Tadini G. Cohen’s syndrome. In: Atlas of genodermatoses. London, New York: Taylor and Francis, 2006. Pp. 650– 653.; Chandler K.E., Kidd A., Al-Gazali L. et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 2003;40(4):233–41. DOI:10.1136/jmg.40.4.233.; Falk M.J., Feiler H.S., Neilson D.E. et al. Cohen syndrome in the Ohio Amish. Am J Med Genet Part A 2004;128(1): 23–8. DOI:10.1002/ajmg.a.30033.; Kivitie-Kallio S., Autti T., Salonen O. et al. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics 1998;29(6):298–301. DOI:10.1055/s-2007-973581.; Kivitie-Kallio S., Eronen M., Lipsanen-Nyman M. et al. Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. Clin Genet 1999;56(1):41–9. DOI:10.1034/j.1399-0004.1999.560106.; Kivitie-Kallio S., Larsen A., Kajasto K. et al. Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. Neuropediatrics 1999;30(4):181–9. DOI:10.1055/s-2007-973488.; Kivitie-Kallio S., Summanen P., Raitta C. et al. Ophthalmologic findings in Cohen syndrome: a long-term follow-up. Ophthalmology 2000;107(9):1737–45. DOI:10.1016/S0161-6420(00)00279-7.; Kolehmainen J., Black G.C., Saarinen A. et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 2003;72(6):1359–69. DOI:10.1086/375454.; Kolehmainen J., Wilkinson R., Lehesjoki A.E. et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet 2004;75(1): 122–7. DOI:10.1086/422197.; Peeters K., Willekens D., Steyaert J. et al. The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. Genet Couns 2008;19(1):1–14.; Rejeb I., Jilani H., Elaribi Y. et al. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. BMC Med Geent 2017;18(1):134–9. DOI:10.1186/s12881017-0493-5.; Seifert W., Holder-Espinasse M., Spranger S. et al. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet 2006;43(5):e22. DOI:10.1136/jmg.2005.039867; Seifert W., Kühnisch J., Maritzen T. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem 2011;286(43):37665–75. DOI:10.1074/jbc.M111.267971.; Taban M., Memoracion-Peralta D.S., Wang H. et al. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS 2007;11(5):431–7. DOI:10.1016/j.jaapos.2007.01.118.; Tahvanainen E., Norio R., Karila E. et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994;7(2):201–4. DOI:10.1038/ng0694-201.; Wang H., Falk M.J., Wensel C. et al. Cohen syndrome. In: GeneReviews®. Eds.: Pagon R.A., Adam M.P., Ardinger H.H. et al. Seattle: University of Washington, Seattle, 1993–2017.; https://rjdn.abvpress.ru/jour/article/view/296
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4Academic Journal
Συγγραφείς: G. E. Rudenskaya, A. O. Shumarina, A. V. Antonets, I. G. Sermyagina, T. D. Krylova, O. A. Shchagina, Г. Е. Руденская, А. О. Шумарина, А. В. Антонец, И. Г. Сермягина, Т. Д. Крылова, О. А. Щагина
Πηγή: Medical Genetics; Том 16, № 11 (2017); 38-41 ; Медицинская генетика; Том 16, № 11 (2017); 38-41 ; 2073-7998
Θεματικοί όροι: panel exome sequencing, младенческая эпилептическая энцефалопатия 42-го типа, недостаточность комплекса I дыхательной цепи митохондрий, ген CACNA1A, ген NDUFB3, infantile epileptic encephalopathy type 42, mitochondrial respiratory chain complex I deficiency, CACNA1A gene, NDUFB3 gene
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Relation: https://www.medgen-journal.ru/jour/article/view/346/262; Mоller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics. Expert Rev Mol Diagn. 2015; 15: 1531-1538.; OMIM (On-line Mendelian Inheritance in Man) http://www.ncbi.nlm.nih.gov; Allen AS, Berkovic SF, Cossette P et al. Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.; Epi4K Consortium. De Novo Mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies Am J Hum Genet. 2016; 99: 287-298.; Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet. 2015; 134: 649-658.; Fassone E, Rahman S. Complex I deficiency: clinical features, biochemistry and molecular genetics. J Med Genet. 2012; 49: 578-590.; Haack TB, Haberberger B, Frisch EM et al. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet. 2012; 49: 277-283.; Calvo SE, Compton AG, Hershman SG et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012; 4: 118ra10.; Alston CL, Howard C, Olаhovа M et al. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet. 2016; 53(9): 634-641.
Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/346