Somatic mosaicism as a basic epileptogenic mechanism?
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چکیده
منابع مشابه
SCIENTIFIC COMMENTARY Somatic mosaicism as a basic epileptogenic mechanism?
In this issue of Brain, Professor Ingrid Scheffer and colleagues describe four unrelated families with epilepsy in females, in which the disease is transmitted through virtually unaffected obligate carrier males. Based on this segregation pattern and the clinical phenotype, they made the diagnosis of epilepsy and mental retardation limited to females (EFMR), and linkage analysis confirmed a loc...
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Double-strand break repair is required for neural development, and brain cells contain somatic genomic variations. Now, Wei et al. demonstrate that neural stem and progenitor cells undergo very frequent DNA breaks in a very restricted set of genes involved in neural cell adhesion and synapse function.
متن کاملSomatic Mosaicism and Disease
The large number of cell divisions required to make a human body inevitably leads to the accumulation of somatic mutations. Such mutations cause individuals to be somatic mosaics. Recent advances in genomic technology now allow measurement of somatic diversity. Initial studies confirmed the expected high levels of somatic mutations within individuals. Going forward, the big questions concern th...
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Mutations causing genetic disorders can occur during mitotic cell division after fertilization, which is called somatic mutations. This leads to somatic mosaicism, where two or more genetically distinct cells are present in one individual. Somatic mutations are the most well studied in cancer where it plays an important role and also have been associated with some neurodegenerative disorders. T...
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Linear lichen planus (LP) is a rare dermatologic disease in which lichenoid lesions conform to a blaschkolinear distribution, most commonly on the extremities. Linear discoid lupus erythematosus (DLE) is a cutaneous manifestation of lupus that also conforms to Blaschko’s lines. Blaschkolinear disorders have been shown to result from somatic mosaicism, most recently in nevus sebaceus, epidermal ...
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ژورنال
عنوان ژورنال: Brain
سال: 2008
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awn056