Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 239-248 |
| Number of pages | 10 |
| Journal | Seminars in Neurology |
| Volume | 34 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jul 1 2014 |
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Keywords
- brain
- children
- disruptions
- genetics
- malformations
- neuroimaging
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
- Medicine(all)
Cite this
Congenital brain abnormalities : An update on malformations of cortical development and infratentorial malformations. / Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M.
In: Seminars in Neurology, Vol. 34, No. 3, 01.07.2014, p. 239-248.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital brain abnormalities
T2 - An update on malformations of cortical development and infratentorial malformations
AU - Poretti, Andrea
AU - Boltshauser, Eugen
AU - Huisman, Thierry A G M
PY - 2014/7/1
Y1 - 2014/7/1
N2 - 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.
AB - 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.
KW - brain
KW - children
KW - disruptions
KW - genetics
KW - malformations
KW - neuroimaging
UR - http://www.scopus.com/inward/record.url?scp=84928572674&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84928572674&partnerID=8YFLogxK
U2 - 10.1055/s-0034-1386762
DO - 10.1055/s-0034-1386762
M3 - Article
C2 - 25192502
AN - SCOPUS:84928572674
VL - 34
SP - 239
EP - 248
JO - Seminars in Neurology
JF - Seminars in Neurology
SN - 0271-8235
IS - 3
ER -