Scientific article

Mapping the molecular and cellular complexity of cortical malformations

Published inScience, vol. 371, no. 6527, eaba4517
Publication date2021-01-22

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.

  • Cerebral Cortex / abnormalities
  • Gene Expression Regulation, Developmental
  • Humans
  • Mental Disorders / genetics
  • Mice
  • Nervous System Diseases / genetics
Citation (ISO format)
KLINGLER, Esther et al. Mapping the molecular and cellular complexity of cortical malformations. In: Science, 2021, vol. 371, n° 6527, p. eaba4517. doi: 10.1126/science.aba4517
Main files (1)
Article (Published version)
ISSN of the journal0036-8075

Technical informations

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