Cortical Malformations: From Gene to Phenotype.
Alireza Radmanesh1
1New York University, New York, NY, United States
Synopsis
Understanding cortical development and embryology is essential to have a deep understanding of cortical malformations. Cortical malformations are classically categorized based on the stage of cortical development that is impacted: Proliferation, migration, late migration/organization. With our increasing understanding of molecular pathways and genetics, it has come to light that many different genes can lead to a similar MRI appearance (phenotype) because they are parts of the same molecular pathway. Therefore, understanding molecular pathways is more helpful than memorizing genes in attempts to understand disease conditions.
Understanding cortical development and embryology is essential to have a deep understanding of cortical malformations. Cortical malformations are classically categorized based on the stage of cortical development that is impacted: Proliferation, migration, late migration/organization. With our increasing understanding of molecular pathways and genetics, it has come to light that many different genes can lead to a similar MRI appearance (phenotype) because they are parts of the same molecular pathway. Therefore, understanding molecular pathways is more helpful than memorizing genes in attempts to understand disease conditions.Acknowledgements
No acknowledgement found.References
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Proc. Intl. Soc. Mag. Reson. Med. 29 (2021)