Features include always present findings: Axial hypotonia, Hypsarrhythmia, Status epilepticus, and Loss of previously acquired skills (developmental regression) and others.

ARV1 encodes ARV1 fatty acid homeostasis modulator (271 aa). Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis. Participates in sterol transport out of the ER and distribution into plasma membranes Highest expression in Testis (36.4 TPM) and Brain Spinal cord cervical c-1 (29.7 TPM).

Developmental and epileptic encephalopathy, 38 is associated with mutations in the ARV1 gene on chromosome 1.

The ARV1 protein participates in ARV1 transports CHOL from ER membrane to plasma membrane pathway.

ARV1 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for ARV1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 38 has been reported in the published literature.

Phenotype severity distribution: 18 always present features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 38.

99 publications have been identified in PubMed for developmental and epileptic encephalopathy, 38. Research spans Epidemiology / Natural History (32%), Case Report / Case Series (19%), and Review / Meta-Analysis (17%).