Features include always present findings: Hypsarrhythmia, Inability to walk, Seizure, and Profound intellectual disability and others; and common findings: Spastic tetraplegia, Focal impaired awareness seizure, Myoclonic seizure, and EEG with burst suppression and others.

CNPY3 encodes canopy FGF signaling regulator 3 (278 aa). Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Highest expression in Whole Blood (237.2 TPM) and Spleen (195.5 TPM).

Developmental and epileptic encephalopathy, 60 is associated with mutations in the CNPY3 gene on chromosome 6.

The CNPY3 protein participates in TLR folding by chaperones GP96 and CNPY3 pathway.

CNPY3 is classified as a druggable target with score 0.0.

Genetic testing for CNPY3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 60 has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 5 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 60.

108 publications have been identified in PubMed for developmental and epileptic encephalopathy, 60. Research spans Epidemiology / Natural History (32%), Review / Meta-Analysis (16%), and Diagnostic / Biomarker (14%).