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- W2085454001 abstract "After almost 60 years since the original description, we have reviewed the results of the more recent studies on schizencephaly in an attempt to delineate its imaging and clinical spectra of presentation and to point out the still unsettled controversies on its pathogenesis. The clinical picture is mainly based on the presence of motor deficits and mental retardation, but the severity of the clinical picture is extremely variable, mainly related to the size and location of the clefts and to the presence of associated cerebral malformations. By contrast, the outcome of epilepsy, which is present in about half of the cases and drug resistant in a third, is not strictly related to the severity of the malformation. Some clinical and functional magnetic resonance imaging studies have suggested that, beside the features of the anatomic damage, the functional reorganization of a malformed and unaffected cortex is most likely crucial in determining the clinical outcome. Review of the genetic studies and the more recent personal data suggests that the role of the EMX2 gene in schizencephaly, if any, is restricted to a minority of cases, leaving the etiopathogenesis of this brain malformation still a matter of study and debate. ( J Child Neurol 2005;20:313—318)." @default.
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- W2085454001 date "2005-04-01" @default.
- W2085454001 modified "2023-09-25" @default.
- W2085454001 title "Topical Review: Schizencephaly: Clinical Spectrum, Epilepsy, and Pathogenesis" @default.
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- W2085454001 doi "https://doi.org/10.1177/08830738050200040801" @default.
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