Search Results - "МОЛЕКУЛЯРНОЕ КАРИОТИПИРОВАНИЕ"

Source: Neurology, Neuropsychiatry, Psychosomatics; Vol 6, No 1S (2014): Special issue "Epilepsy"; 4-8 ; Неврология, нейропсихиатрия, психосоматика; Vol 6, No 1S (2014): Special issue "Epilepsy"; 4-8 ; 2310-1342 ; 2074-2711 ; 10.14412/2074-2711-2014-1S

Subject Terms: молекулярное кариотипирование, children, monogenic epilepsies, genetic examination, epileptic encephalopathies, molecular karyotyping, дети, моногенные эпилепсии, генетическое обследование, эпилептическая энцефалопатия

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Relation: https://nnp.ima-press.net/nnp/article/view/405/399; Ottman R, Hirose S, Jain S, et al. Genetic testing in the epilepsies–Report of the ILAE Genetics Commission. Epilepsia. 2010;51(4):655–70. DOI:10.1111/j.1528- 1167.2009.02429.x. Epub 2010 Jan 19.; Gaily E, Anttonen AK, Valanne L, et al. Dravet syndrome: new potential genetic modi- fiers, imaging abnormalities, and ictal findings. Epilepsia. 2013;54(9):1577–85. DOI:10.1111/epi.12256. Epub 2013 Jun 28.; Scheffer IE, Zhang YH, Gecz Z, Dibbens L. Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia, 2010;51 Suppl 1:33–6 . DOI:10.1111/j.1528- 1167.2009.02440.x.; GeneDx DNA diagnostic experts. Available from: http://www.genedx.com; Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013; 45(9):1067–72. DOI:10.1038/ng.2728. Epub 2013 Aug 11.; Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic apha- sia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013;45(9):1061–6. DOI:10.1038/ng.2726. Epub 2013 Aug 11.; Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol. 2011;70(6):974–85. DOI:10.1002/ana.22645. 8. Mulley JC, Mefford HC. Epilepsy and the new cytogenetics. Epilepsia. 2011;52(3):423–32. DOI:10.1111/j.1528- 1167.2010.02932.x. Epub 2011 Jan 26.; Lund C, Brodtkorb E, Rїsby O, et al. Copy number variants in adult patients with Lennox–Gastaut syndrome features.; Epilepsy Res. 2013;105(1–2):110–7. DOI:10.1016/j.eplepsyres.2013.01.009. Epub 2013 Feb 13.; Ворсанова СГ, Юров ЮБ, Сильванович АП и др. Современные пред- ставления о молекулярной генетике и гене- тике аутизма. Фундаментальные исследова- ния. 2013;(4–2):356–67. [Vorsanova SG, Yurov YB, Silvanovich AP, et al. Current con- cepts in molecular genetics and genomics of autism. Fundamental'nye issledovaniya. 2013;(4–2):356–67.]; Paciorkowski AR, Thio Ll, Dobyns WB. A genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011;45(6):355–67. DOI:10.1016/j.pediatrneurol.2011.08.010.

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https://doi.org/10.14412/2074-2711-2014-1S-4-8

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