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 model (in progress)

Cure CLCN4 is funding the generation of two Clcn4-rat models (a Clcn4 KO model and a Clcn4 A549V PM) which will become freely available to the scientific community once generated. More details coming soon! 

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.

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