Abstract
Clinical and MRI studies in relatives of patients with cortical dysplasia (CD) can provide a new insight to the genetic aspect of this disease, in which some genetic anomaly in one of the three main process of cortical formation: proliferation, migration and organization, is one of the most frequent cause of the malformation.
Three new families with more than one relative with CD were reported:
a) Proband with lissencephaly and mother with bifrontal band heterotopia (X-linked lissencephaly) b) Proband with diffuse biopercolar CD; the sister, the mother, and the grandmother with focal biopercolar CD; the two aunt with mild intellectual impairment but apparently normal MRI c) Two sisters, monozygotic twins with biopercolar CD.
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