A Developmental and Genetic Classification for Malformations of Cortical Development

Update 2012

A. James Barkovich; Renzo Guerrini; Ruben I. Kuzniecky; Graeme D. Jackson; William B. Dobyns

Disclosures

Brain. 2012;135(5):1348-1369. 

In This Article

Conclusion

In order to retain its utility for the clinician and physician scientist, both the framework and the content of this classification of Malformations of Cortical Development have been updated based upon recent scientific and clinical advances. Although complexity of this classification has increased, making it more cumbersome, accurate diagnoses are essential for both clinical and genetic counselling; thus, the authors believe that this level of complexity is currently necessary. Further updates (and, hopefully, simplification) will be required as information accumulates about the clinical, embryological, genetic and molecular biological aspects of these disorders. Unfortunately despite the many discoveries in genetics, advances in this field have been slowed by the limited access to human brain specimens for developmental neuropathology studies, such as cell lineage, gene expression and searches for somatic mosaicism, upon rare malformation of cortical developments. FCD is the exception, and this can be attributed to the flourishing of epilepsy surgery programmes. However, limited resources appear to be available for classical developmental neuropathology, with inadequate networks to facilitate access to post-mortem brain tissue containing malformations of cortical development. Hopefully, such an organization can be developed, and our knowledge will quickly increase to the point where these disorders are grouped according to the affected pathways; the tasks of both future authors and their readers will thereby be simplified.

processing....