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1Academic Journal
Source: Неврология и нейрохирургия. Восточная Европа. :296-311
Subject Terms: врожденные мальформации центральной нервной системы, congenital malformations of the brain, 03 medical and health sciences, 0302 clinical medicine, drug-resistant epilepsy, хирургическое лечение, фармакорезистентная эпилепсия, surgical treatment, гемимегалэнцефалия, hemimegalencephaly, 3. Good health
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2Academic Journal
Authors: A. S. Kotov, K. V. Firsov, А. С. Котов, К. В. Фирсов
Source: Russian Journal of Child Neurology; Том 17, № 3 (2022); 63-71 ; Русский журнал детской неврологии; Том 17, № 3 (2022); 63-71 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2022-17-3
Subject Terms: шизэнцефалия, malformations, brain, cortex, lissencephaly, pachygyria, polymicrogyria, hemimegaloencephaly, holoprosencephaly, schizencephaly, мальформации, головной мозг, кора головного мозга, лиссэнцефалия, пахигирия, полимикрогирия, гемимегалэнцефалия, голопрозэнцефалия
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Relation: https://rjdn.abvpress.ru/jour/article/view/407/280; Мухин К.Ю., Безрукова И.С., Тягун Н.С. и др. Синдром Миллера–Дикера. Русский журнал детской неврологии 2008;3(3):61–6.; Серёжкина А.В., Миненкова Т.А., Разинькова Н.С. и др. Клинический случай семилобарной голопрозэнцефалии у ребенка. Международный студенческий научный вестник 2020;(2):49.; Barkovich A.J., Guerrini R., Kuzniecky R.I. et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135(Pt 5):1348–69. DOI:10.1093/brain/aws019; Barkovich A.J., Kuzniecky R.I. Gray matter heterotopia. Neurology 2000;55(11):1603–8. DOI:10.1212/wnl.55.11.1603; Barkovich A.J. MRI analysis of sulcation morphology in polymicrogyria. Epilepsia 2010;51(Suppl 1):17–22. DOI:10.1111/j.1528-1167.2009.02436.x; Chand P., Manglani P., Abbas Q. Hemimegalencephaly: seizure outcome in an infant after hemispherectomy. J Pediatr Neurosci 2018;13(1):106–8. DOI:10.4103/JPN.JPN_56_17; Chand P., Raghib M.F., Salat M.S., Arain F.M. Hemimegalencephaly with intractable epilepsy: A case report. J Pak Med Assoc 2017;67(9):1444–6.; Chen C.P., Liu Y.P., Lin S.P. et al. Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller–Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2–>pter) in a fetus. Taiwan J Obstet Gynecol 2010;49(1):81–6. DOI:10.1016/S1028-4559(10)60015-0; De Vita D., Mei D., Rutigliano D. et al. Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. Am J Med Genet A 2018;176(12):2808–12. DOI:10.1002/ajmg.a.40503; Deleo F., Hong S.J., Fadaie F. et al. Whole-brain multimodal MRI phenotyping of periventricular nodular heterotopia. Neurology 2020;95(17):e2418–26. DOI:10.1212/WNL.0000000000010648; DeMyer W., Zeman W., Palmer C.D. Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate. Report of patient with 46 chromosomes. Neurology 1963;13:913–8. DOI:10.1212/wnl.13.11.913; Denis D., Chateil J.F., Brun M., et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev 2000;22(8):475–83. DOI:10.1016/s0387-7604(00)00173-x; Di Donato N., Chiari S., Mirzaa G.M. et al. Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A 2017;173(6):1473–88. DOI:10.1002/ajmg.a.38245; Donkol R.H., Moghazy K.M., Abolenin A. Assessment of gray matter heterotopia by magnetic resonance imaging. World J Radiol 2012;4(3):90–6. DOI:10.4329/wjr.v4.i3.90; Dubourg C., Kim A., Watrin E. et al. Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet C Semin Med Genet 2018;178(2):258–69. DOI:10.1002/ajmg.c.31619; Gobbi G., Genton P., Pini A. et al. Epilepsies and chromosomal disorders. In: Epileptic syndromes in infancy, childhood and adolescence. 3rd edn. Eds.: J. Roger, M. Bureau, Ch. Dravet et al. London: John Libbey, 2002. Pp. 431–455.; Guerrini R., Sicca F., Parmeggiani L. Epilepsy and malformations of the cerebral cortex. Epileptic Disord 2003;5(Suppl 2):S9–26.; Hahn J.S., Plawner L.L. Evaluation and management of children with holoprosencephaly. Pediatr Neurol 2004;31(2):79–88. DOI:10.1016/j.pediatrneurol.2004.03.006; Halabuda A., Klasa L., Kwiatkowski S. et al. Schizencephalydiagnostics and clinical dilemmas. Childs Nerv Syst 2015;31(4):551–6. DOI:10.1007/s00381-015-2638-1; Kattuoa M.L., Das J.M. Lissencephaly 2021 Jul 9. In: StatPearls. Treasure Island: StatPearls Publishing, 2021.; Kim Y.O., Nam T.S., Park C. et al. Familial pachygyria in both genders related to a DCX mutation. Brain Dev 2016;38(6):585–9. DOI:10.1016/j.braindev.2015.12.005; Kobayashi E., Bagshaw A.P., Grova C. et al. Grey matter heterotopia: what EEG-fMRI can tell us about epileptogenicity of neuronal migration disorders. Brain 2006;129(Pt 2):366–74. DOI:10.1093/brain/awh710; Kruszka P., Martinez A.F., Muenke M. Molecular testing in holoprosencephaly. Am J Med Genet C Semin Med Genet 2018;178(2):187–93. DOI:10.1002/ajmg.c.31617; Kuzniecky R.I. Malformations of cortical development and epilepsy, part 1: diagnosis and classification scheme. Rev Neurol Dis 2006;3(4):151–62.; Leventer R.J., Guerrini R., Dobyns W.B. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 2008;10(1):47–62. DOI:10.31887/DCNS.2008.10.1/rjleventer; Leventer R.J., Phelan E.M., Coleman L.T. et al. Clinical and imaging features of cortical malformations in childhood. Neurology 1999;53(4):715–22. DOI:10.1212/wnl.53.4.715; Lippi G. Neuropsychiatric symptoms and diagnosis of grey matter heterotopia: A case-based reflection. S Afr J Psychiatr 2017;23:923. DOI:10.4102/sajpsychiatry.v23i0.923; Najm I., Lal D., Alonso Vanegas M. et al. The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 2022. DOI:10.1111/epi.17301.; Petryk A., Graf D., Marcucio R. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol 2015;4(1):17–32. DOI:10.1002/wdev.161; Poirier K., Lebrun N., Broix L. et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013;45(6):639–47. DOI:10.1038/ng.2613; Roessler E., Hu P., Muenke M. Holoprosencephaly in the genomics era. Am J Med Genet C Semin Med Genet 2018;178(2):165–74. DOI:10.1002/ajmg.c.31615; Shi X., Huang W., Lu J. et al. Prenatal diagnosis of Miller–Dieker syndrome by chromosomal microarray. Ann Hum Genet 2021;85(2):92–6. DOI:10.1111/ahg.12407; Stafford Johnson D.B., Brennan P., Dwyer A.J., Toland J. Grey matter heterotopia: an unusual association of intractable epilepsy. Ir J Med Sci 1997;166(3):135–8. DOI:10.1007/BF02943590; Stutterd C.A., Francis D., McGillivray G. et al. Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. Eur J Med Genet 2020;63(4):103774. DOI:10.1016/j.ejmg.2019.103774; Watrin F., Manent J.B., Cardoso C., Represa A. Causes and consequences of gray matter heterotopia. CNS Neurosci Ther 2015;21(2):112–22. DOI:10.1111/cns.12322; Zając-Mnich M., Kostkiewicz A., Guz W. et al. Clinical and morphological aspects of gray matter heterotopia type developmental malformations. Pol J Radiol 2014;79:502–7. DOI:10.12659/PJR.890549; Zhang H., Yang X., Tang X. et al. Prenatal diagnosis of a fetus with Miller–Dieker syndrome. Zhonghua Yi Xue Yi ChuanXue Za Zhi 2020;37(11):1280–2. DOI:10.3760/cma.j.cn511374-20190902-00443; https://rjdn.abvpress.ru/jour/article/view/407
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3Academic Journal
Authors: Н.В.Михайлова, С.В.Савинов, Я.Е. Акчурина, И.В. Гребенюкова, Ж.Е. Утебеков, И.Ю.Ситников, Р.А. Абедимова, Г.Н. Есимова, Т.Н.Синицына
Subject Terms: гемимегалэнцефалия (ГМЭ), пренатальная диагностика врожденных пороков развития головного мозга (ВПР ГМ), гемисферотомия, гемисферэктомия
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4Academic Journal
Source: Журнал «Нейрохирургия и неврология Казахстана».
Subject Terms: гемимегалэнцефалия (ГМЭ), пренатальная диагностика врожденных пороков развития головного мозга (ВПР ГМ), гемисферотомия, гемисферэктомия, 3. Good health
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