Extensive malformation of cortical development
محل انتشار: هجدهمین کنگره بین المللی صرع
سال انتشار: 1400
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 300
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شناسه ملی سند علمی:
EPILEPSEMED18_021
تاریخ نمایه سازی: 16 اسفند 1400
چکیده مقاله:
Malformations of cortical development (MCDs) are a spectrum of rare disorders causing developmental delay and epilepsy. Extent of malformation and underlying genetic characteristics of MCDs determine the severity of manifesting feature of disorders. MCDs caused by disruption of three fundamental stages of corticogenesis: cell proliferation, neuronal migration and post-migrational development. Although definite diagnosis of MCDs is based on pathology of tissues, neuroimaging plays an important role in diagnosis and classification of MCDs due to unavailability of tissue pathology. With improved genetic methodologies, the underlying molecular and pathological features of several MCDs have been recently clarified. The purpose of this Review is to provide standard MCDs terminology and classification according to disturbed stage of corticogenesis, some genetic mutation and common radiological features of them.
نویسندگان
Samaneh Haghighi
MD Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.