Literature DB >> 25192502

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.

Andrea Poretti1, Eugen Boltshauser2, Thierry A G M Huisman1.   

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. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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Year:  2014        PMID: 25192502     DOI: 10.1055/s-0034-1386762

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  7 in total

1.  Can Latent Class Analysis Be Used to Improve the Diagnostic Process in Pediatric Patients with Chronic Ataxia?

Authors:  Samantha Klassen; Brenden Dufault; Michael S Salman
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

Review 2.  MRI of the Fetal Brain.

Authors:  C Weisstanner; G Kasprian; G M Gruber; P C Brugger; D Prayer
Journal:  Clin Neuroradiol       Date:  2015-06-11       Impact factor: 3.649

3.  Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

Authors:  Jack E Steiner; Garrett N McCoy; Christopher P Hess; William B Dobyns; Denise W Metry; Beth A Drolet; Mohit Maheshwari; Dawn H Siegel
Journal:  Am J Med Genet A       Date:  2017-11-24       Impact factor: 2.802

Review 4.  Imaging structural and functional brain development in early childhood.

Authors:  John H Gilmore; Rebecca C Knickmeyer; Wei Gao
Journal:  Nat Rev Neurosci       Date:  2018-02-16       Impact factor: 34.870

Review 5.  Diagnostic Approach to Cerebellar Hypoplasia.

Authors:  Andrea Accogli; Nassima Addour-Boudrahem; Myriam Srour
Journal:  Cerebellum       Date:  2021-02-03       Impact factor: 3.847

6.  A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.

Authors:  Guoling Tian; Ana G Cristancho; Holly A Dubbs; Grant T Liu; Nicholas J Cowan; Ethan M Goldberg
Journal:  Mol Genet Genomic Med       Date:  2016-09-28       Impact factor: 2.183

7.  A New Rat Model of Epileptic Spasms Based on Methylazoxymethanol-Induced Malformations of Cortical Development.

Authors:  Eun-Hee Kim; Mi-Sun Yum; Minyoung Lee; Eun-Jin Kim; Woo-Hyun Shim; Tae-Sung Ko
Journal:  Front Neurol       Date:  2017-06-12       Impact factor: 4.003

  7 in total

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