Features include always present findings: Bilateral tonic-clonic seizure, Inability to walk, Generalized myoclonic seizure, and Seizure and others; and common findings: Poor head control, Long philtrum, Strabismus, and Myoclonic seizure and others. 32 total HPO annotations.

CPLX1 encodes complexin 1 (134 aa). Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Highest expression in Brain Frontal Cortex BA9 (309.4 TPM) and Brain Cerebellar Hemisphere (281.4 TPM).

Developmental and epileptic encephalopathy, 63 is associated with mutations in the CPLX1 gene on chromosome 4.

CPLX1 is classified as a druggable target with score 0.0.

Genetic testing for CPLX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 63 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 20 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 63.

77 publications have been identified in PubMed for developmental and epileptic encephalopathy, 63. Research spans Epidemiology / Natural History (30%), Review / Meta-Analysis (29%), and Clinical Trial Publication (16%).