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  • 1
    ISSN: 1432-0533
    Keywords: Key words Microtubule-associated proteins ; Epilepsy ; Migration disorders ; Cortical dysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the enhanced expression of early forms of microtubule-associated proteins (MAPs) in cortical dysplasia in surgical resections from 17 children with intractable epilepsy. Large neurons, which represent one of the characteristic cellular features of cortical dysplasia, showed strong immunoreactivity for MAP1B, as well as the low-molecular-weight isoform of MAP2 (MAP2c). Insitu hybridization with MAP1B antisense riboprobe showed markedly increased hybridization signal intensities in the large neurons, whereas neurons in the normal-appearing cortex and most of the normal-sized neurons in the dysplastic cortex had faint signals. Because MAP2c and MAP1B are early forms of MAPs, which are abundantly expressed in the developing brain and down-regulated in the adult, and are thought to be involved in neuronal outgrowth and plasticity, our results suggest that the structural remodeling of neuronal processes is activated in cortical dysplasia.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 44 (1978), S. 213-217 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7–8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. To our knowledge the present report is the fifth one of 18p- mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.
    Type of Medium: Electronic Resource
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