Malformations of Cerebral Cortex Development: Molecules and Mechanisms.
focal cortical dysplasia
hemimegalencephaly
hippocampal dysgenesis
lissencephaly
microcephaly
polymicrogyria
Journal
Annual review of pathology
ISSN: 1553-4014
Titre abrégé: Annu Rev Pathol
Pays: United States
ID NLM: 101275111
Informations de publication
Date de publication:
24 01 2019
24 01 2019
Historique:
entrez:
25
1
2019
pubmed:
25
1
2019
medline:
21
4
2020
Statut:
ppublish
Résumé
Malformations of cortical development encompass heterogeneous groups of structural brain anomalies associated with complex neurodevelopmental disorders and diverse genetic and nongenetic etiologies. Recent progress in understanding the genetic basis of brain malformations has been driven by extraordinary advances in DNA sequencing technologies. For example, somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells during development are now recognized as the cause of hemimegalencephaly and some types of focal cortical dysplasia. In addition, research on brain development has begun to reveal the cellular and molecular bases of cortical gyrification and axon pathway formation, providing better understanding of disorders involving these processes. New neuroimaging techniques with improved resolution have enhanced our ability to characterize subtle malformations, such as those associated with intellectual disability and autism. In this review, we broadly discuss cortical malformations and focus on several for which genetic etiologies have elucidated pathogenesis.
Identifiants
pubmed: 30677308
doi: 10.1146/annurev-pathmechdis-012418-012927
pmc: PMC6938687
mid: NIHMS1064843
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
293-318Subventions
Organisme : NINDS NIH HHS
ID : R01 NS085081
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS092339
Pays : United States
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