Congenital Brain Abnormalities: An Update on Malformations of Cortical Development and Infratentorial Malformations
Open accessAbstract
In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments.
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The morphometry and functional organization of the infant brain arises in part through precise spatiotemporal regulation of gene expression.
“The morphometry and functional organization of the infant brain arises, in part, through the precise spatiotemporal regulation of gene expression156.”
From Imaging structural and functional brain development in early childhood (2018) · cites this paper as [156]
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References 46 · Cited by 20
- Authors
- Boltshauser, E., Huisman, T., & Poretti, A.
- Affiliations
- University Children's Hospital Zurich (CH)
- Johns Hopkins University (US)
- Corresponding author
- Poretti, Andrea
- Venue
- Seminars in Neurology
- Publisher
- Georg Thieme Verlag KG
- Published
- 2014-09-05
- Volume
- 34
- Issue
- 03
- Pages
- 239-248
- ISSN
- 0271-8235 (ISSN-L)
- 1098-9021
- OpenAlex
- W2004470734
- Cited by
- 20
- References
- 46
- Citations by year
- 2026: 2 · 2024: 3 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 5 · 2017: 2 · 2016: 2 · 2015: 1
- FWCI
- 1.57
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Seminars in Neurology (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal and fetal brain pathology
- Keywords
- congenital brain malformation, malformations of cortical development, tubulinopathy, pathogenesis, family counseling
- MeSH terms
- Animals, Brain, Humans, Nervous System Malformations, Prognosis, Genetic Predisposition to Disease, Malformations of Cortical Development, Neuroimaging
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