Research

Relevant publications

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.

https://www.ncbi.nlm.nih.gov/books/NBK169825/

2. An informative review of our understanding of the mechanisms of CASK and the role of mouse models.

The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model (March 2022)

4.. A summary and categorisation of the various clinical phenotypes in boys and males with different CASK pathogenic variants.

https://pubmed.ncbi.nlm.nih.gov/25886057/

5. Ongoing research on CASK variants by Hans-Jürgen Kreienkamp and his team

Functional analysis of CASK transcript variants expressed in human brain – PubMed (nih.gov)

6. Researchers use genetic manipulation techniques to highlight how the function of a protein can lead to neurodevelopmental delays (Feb 2019)

Looking behind a rare brain disease for clues to treat more common mental disorders