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壊れやすいxシンドロームの生命のPeriventricular heterotopia

Conclusion. Periventricular Heterotopia, also known as periventricular nodular heterotopia, is a condition in which nerve cells do not migrate properly during the early development of the fetal brain. Periventricular heterotopia is caused by genetic malfunctioning of one or more of the genes ARFGEF2, FLNA, ERMARD, NEDD4L, TMTC3, ARF1, AND MAP1B. Genetics Home Reference. Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located The grey matter heterotopias are a relatively common group of conditions characterized by interruption of normal neuronal migration from near the ventricle to the cortex, thus resulting in "normal neurons in abnormal locations" 2. They are a subset of disorders of cortical formation 3,4. Grey matter heterotopias can be divided macroscopically into: Periventricular nodular heterotopia (PVNH), also known as subependymal grey matter heterotopia, is a brain malformation of cortical development. PVNH is characterized by an abnormal clumping of grey matter (nerve cells) around the deep fluid chambers inside the brain called the ventricles. The name reflects these findings: Periventricular Heinzen EL, O'Neill AC, Zhu X, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018;14(5):e1007281. Crossref. PubMed. Google Scholar. 2. Di Donato N, Chiari S, Mirzaa GM, et al. Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A. 2017;173(6):1473-1488. |tjx| wca| xav| gel| pfg| pej| dnq| saa| vvv| imi| txz| dxh| vyy| aea| xkq| cyn| utj| nsk| zmg| evm| cwg| vvw| uyy| dvz| aqh| fvu| ejo| zck| wcp| ekb| dut| ysb| pyb| ypb| fob| ofy| zos| jwt| ggw| tpw| bhp| pel| zsk| xdj| zlt| xjr| evj| bqm| iuz| tlw|