Mapping the molecular and cellular complexity of cortical malformations

The cerebral cortex is an intricate structure that controls human features such as language and cognition. Cortical functions rely on specialized neurons that emerge during development from complex molecular and cellular interactions. Neurodevelopmental disorders occur when one or several of these s...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) Vol. 371; no. 6527
Main Authors: Klingler, Esther, Francis, Fiona, Jabaudon, Denis, Cappello, Silvia
Format: Journal Article
Language:English
Published: United States 22.01.2021
Subjects:
Animals
Behavior
Cell Movement - genetics
Cell Movement - physiology
Cerebral Cortex - abnormalities
Cerebral Cortex - metabolism
Cerebral Cortex - ultrastructure
Gene Expression Regulation, Developmental
Humans
Mental Disorders - genetics
Mental Disorders - metabolism
Mice
Nervous System Diseases - genetics
Nervous System Diseases - metabolism
Neural Pathways - abnormalities
Neural Pathways - metabolism
Neural Pathways - ultrastructure
Neurogenesis - genetics
Neurogenesis - physiology
Neurons - cytology
Neurons - physiology
Organ Specificity - genetics
Organ Specificity - physiology
ISSN:1095-9203, 1095-9203
Online Access:Get more information
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Summary:The cerebral cortex is an intricate structure that controls human features such as language and cognition. Cortical functions rely on specialized neurons that emerge during development from complex molecular and cellular interactions. Neurodevelopmental disorders occur when one or several of these steps is incorrectly executed. Although a number of causal genes and disease phenotypes have been identified, the sequence of events linking molecular disruption to clinical expression mostly remains obscure. Here, focusing on human malformations of cortical development, we illustrate how complex interactions at the genetic, cellular, and circuit levels together contribute to diversity and variability in disease phenotypes. Using specific examples and an online resource, we propose that a multilevel assessment of disease processes is key to identifying points of vulnerability and developing new therapeutic strategies.
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ISSN:1095-9203
1095-9203
DOI:10.1126/science.aba4517