Resources – for professionals 

At Cure CLCN4 we are working to provide the scientific community with the necessary tools to further research on CLCN4-related neurodevelopmental disorder. Below is a list of resources including upcoming research tools, informational resources and recordings of past scientific conferences. 

.

CLCN4 genetics

Research tools

Rat models (ORDER NOW!)

Two Clcn4-rat models produced by PHENOMIN-ICS and funded by Cure CLCN4, are now available for research on the EMMA repository of InfrafrontierEU. Click here to order now! 

Available rat models:

  • Clcn4 knockout.
  • Clcn4 A549V point mutation (equivalent to human A555V PM).

Patient-derived iPSCs

We are very grateful to the Simons Searchlight foundation for the generation of induced pluripotent stem cells (iPSCs) from blood samples provided by CLCN4-affected families who have registered in the Simons Searchlight registry. A list of the upcoming cell lines will be available soon here.

Clinical resources

GeneReviews for CLCN4-Related Neurodevelopmental Disorder

This GeneReview publication contains up to date information about CLCN4-related neurodevelopmental disorder including diagnosis, clinical characteristics, management and resources.

Past conferences

Inaugural CureCLCN4 Scientific Conference

Our first scientific conference took place last May 2022, hosting a range of fantastic speakers and informative talks on CLCN4-related condition, rare disease, ion channels, neuroscience and drug discovery. Recordings of the conference are available here.

Get in Touch. Get Involved.

14 + 13 =

Share This