Malformations of cortical development: genetic mechanisms and diagnostic approach
نویسندگان
چکیده
منابع مشابه
Malformations of cortical development: genetic mechanisms and diagnostic approach
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging ...
متن کاملMalformations of cortical development.
Malformations of cortical development (MCD) have been increasingly identified. The purpose of this presentation is to review the current knowledge of the MCD. Before we address this issue, we will briefly present a review of cortical development. The second part of this presentation will address the most important MCD. Finally, the last part of this presentation will address the correlation bet...
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is likely to be affected. As novel genes and variants associated with MCD are discovered using next-generation sequencing (NGS) technology, an updated classification system for MCD has become more reliant on NGS findings [1,4]. Identification of disease-causing mutations, including inherited or de novo mutation, in MCD has revealed the molecular genetic basis of clinical manifestations [5-9]. A...
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Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neur...
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Malformations of cortical development (MCD) include a broad range of disorders that result from disruption of the major steps of cortical development: cell proliferation in germinal zones, neuronal migration and cortical organization. With the improvement and increased utilization of modern imaging techniques, MCD have been increasingly recognized as a major cause of seizure disorders. The adve...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2017
ISSN: 1738-1061,2092-7258
DOI: 10.3345/kjp.2017.60.1.1