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

Renzo Guerrini, William B. Dobyns, A. James Barkovich

Research output: Contribution to journalReview articlepeer-review

208 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)154-162
Number of pages9
JournalTrends in Neurosciences
Issue number3
StatePublished - Mar 2008
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported in part by a grant from the EU Sixth Framework Thematic Priority Life Sciences, Genomics and Biotechnology for Health, contract number LSH-CT-2006-037315 (EPICURE) (to R.G.).


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