De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

Overview of attention for article published in American Journal of Human Genetics, March 2025

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news: 9 news outlets
blogs: 4 blogs

twitter: 10 X users
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RT @interactivefly: A. H., Andrews, J. C., Eberl, D. F., ...., Tekin, M., Bellen, H. J., Kanca, O. (2025). De novo variants in CDKL1 and CD…

A. H., Andrews, J. C., Eberl, D. F., ...., Tekin, M., Bellen, H. J., Kanca, O. (2025). De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet, 112(4):846-862 https://t.co/v8ueOOQH4M

De novo variants in CDKL2 found in 5 individuals link to global developmental delay & neurodevelopmental symptoms. #Neurogenetics PMID:40088891, Am J Hum Genet 2025, @AJHGNews https://t.co/7lmgUE1DG2 #AI #Pharma #BioMed #RNA #ASHG #ESHG

Check out the most recent UDN publication! ⭐️ Key takeaway: De novo variants in #CDKL2 and #CDKL1 likely cause neurological symptoms by acting as dominant-negative alleles, expanding the role of the #CDKL family in developmental disorders. @UDNForg h…

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