Our must reads about CASK gene disorders
1. This GeneReview on CASK will help many parents and pediatric neurologists to find detailed information on this rare disorder and the appropriate treatments for the affected children.
2. An informative review of our understanding of the mechanisms of CASK and the role of mouse models.
4.. A summary and categorisation of the various clinical phenotypes in boys and males with different CASK pathogenic variants.
5. Ongoing research on CASK variants by Hans-Jürgen Kreienkamp and his team
6. Researchers use genetic manipulation techniques to highlight how the function of a protein can lead to neurodevelopmental delays (Feb 2019)
CASK may affect brain energy homeostasis and synaptic connections. Alterations in brain volume associated with CASK-linked disorders is the result of degenerative cell death rather than developmental failure.