Malformations of cortical development: genetic mechanisms and diagnostic approach / 소아과
Korean Journal of Pediatrics
;
: 1-9, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-143205
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encéfalo
/
Imagen por Resonancia Magnética
/
Corteza Cerebral
/
Clasificación
/
Epilepsia
/
Malformaciones del Desarrollo Cortical
/
Neurogénesis
/
Epilepsia Refractaria
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2017
Tipo del documento:
Artículo
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