Malformations of cortical development: genetic mechanisms and diagnostic approach / 소아과
Korean Journal of Pediatrics
; : 1-9, 2017.
Article
em En
| WPRIM
| ID: wpr-143212
Biblioteca responsável:
WPRO
ABSTRACT
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 has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Encéfalo
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Imageamento por Ressonância Magnética
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Córtex Cerebral
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Classificação
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Epilepsia
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Malformações do Desenvolvimento Cortical
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Neurogênese
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Epilepsia Resistente a Medicamentos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2017
Tipo de documento:
Article