Features include always present findings: Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Delayed speech and language development, and Truncal ataxia and others; and common findings: EEG with photoparoxysmal response. 18 total HPO annotations.

CERS1 encodes ceramide synthase 1 (350 aa). Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA). Highest expression in Brain Spinal cord cervical c-1 (117.8 TPM) and Brain Substantia nigra (72.6 TPM).

Progressive myoclonic epilepsy type 8 is associated with mutations in the CERS1 gene on chromosome 19.

The CERS1 protein participates in Ceramide synthases transfer acyl-CoA onto sphingoid pathway.

CERS1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for CERS1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 16 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for progressive myoclonic epilepsy type 8.

23 publications have been identified in PubMed for progressive myoclonic epilepsy type 8. Kisho has analyzed 15 by research type. Research spans Case Report / Case Series (47%), Clinical Trial Publication (13%), and Basic Science / Preclinical (13%).