The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
A developmental and genetic classification for malformations of cortical development
Open accessAbstract
Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have resulted in continual improvement of the understanding of these disorders. The authors propose a revised classification based on the stage of development (cell proliferation, neuronal migration, cortical organization) at which cortical development was first affected. The categories are based on known developmental steps, known pathologic features, known genetics (when possible), and, when necessary, neuroimaging features. In those cases in which the precise developmental and genetic features are uncertain, classification is based on known relationships among the genetics, pathologic features, and neuroimaging features. The major change since the prior classification has been a shift to using genotype, rather than phenotype, as the basis for classifying disorders wherever the genotype-phenotype relationship is adequately understood. Other substantial changes include more detailed classification of congenital microcephalies, particularly those in which the genes have been mapped or identified, and revised classification of congenital muscular dystrophies and polymicrogyrias. Information on genetic testing is also included. This classification allows a better conceptual understanding of the disorders, and the use of neuroimaging characteristics allows it to be applied to all patients without necessitating brain biopsy, as in pathology-based classifications.
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Cites
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Cited by
Blümcke, I., Thom, M., Aronica, E., Armstrong, D. D., Vinters, H. V., Palmini, A., Jacques, T. S., Avanzini, G., Barkovich, A. J., Battaglia, G., et al. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2010.02777.x · Cited by 1,743
Self-citationGuerrini, R. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68182-8 · Cited by 848
Self-citationMalformations of cortical development: clinical features and genetic causes
Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513
Self-citationWhole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature · doi:10.1038/nature09327 · Cited by 503
Cerebral cortex expansion and folding: what have we learned?
Fernández, V., Llinares‐Benadero, C., & Borrell, V. (2016) · The EMBO Journal · doi:10.15252/embj.201593701 · Cited by 361
Metadata
- Authors
- Barkovich, A. J., Kuzniecky, R. I., Jackson, G. D., Guerrini, R., & Dobyns, W. B.
- Venue
- Neurology
- Published
- 2005-12-27
- Volume
- 65
- Issue
- 12
- Pages
- 1873-1887
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2114611110
- Cited by
- 725
- References
- 12
- FWCI
- 33.57
- Type
- journal article
- Language
- en
- Open access
- green
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