Features include always present findings: Tented upper lip vermilion, Strabismus, Seizure, and Low muscle tone (hypotonia) and others; and common findings: Bilateral tonic-clonic seizure, Appendicular hypotonia, Infantile spasms, and Drooling and others. 66 total HPO annotations.

FBXO28 encodes F-box protein 28 (368 aa). Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, promoting ubiquitination and proteasomal degradation of specific target proteins including TOP2A, RAB27A or itself. Highest expression in Skin Sun Exposed Lower leg (30.6 TPM) and Skin Not Sun Exposed Suprapubic (26.9 TPM).

Developmental and epileptic encephalopathy 100 is associated with mutations in the FBXO28 gene on chromosome 1.

FBXO28 is classified as a druggable target with score 0.0.

Genetic testing for FBXO28 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 100 has been reported in the published literature.

Phenotype severity distribution: 37 always present features, 11 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 100.

116 publications have been identified in PubMed for developmental and epileptic encephalopathy 100. Research spans Epidemiology / Natural History (26%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (19%).