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Trends Neurosci. 2008 Mar;31(3):154-62. doi: 10.1016/j.tins.2007.12.004. Epub 2008 Feb 8.

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.

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Department of Neurology and Neurosurgery, Children's Hospital A. Meyer, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.


Genetic studies have identified several of the genes associated with malformations of cortical development which might disrupt each of the main stages of cell proliferation and specification, neuronal migration and late cortical organization. The largest malformation groups, focal cortical dysplasia, heterotopia and polymicrogyria, express different perturbations of these stages and carry a variable propensity for lacking activation, preservation or reorganization of cortical function and for atypical cortical organization. Some patients have obvious neurological impairment, whereas others show unexpected deficits that are detectable only by screening. Drug-resistant epilepsy is frequent but might be amenable to surgical treatment. However, the epileptogenic zone might include remote cortical and subcortical regions. Completeness of resection, a key factor for successful surgery, might be difficult, especially in proximity to eloquent cortex. Surgical planning should be based on assessments of structural imaging and of the major functions relevant to the area in question in any such patient.

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