Progressive myoclonic epilepsy type 8

Definition

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.

Also known as CERS1 progressive myoclonic epilepsy, epilepsy, progressive myoclonic, type 8, EPM8, PME type 8, progressive myoclonic epilepsy caused by mutation in CERS1, progressive myoclonic epilepsy due to CERS1 deficiency, progressive myoclonus epilepsy type 8 — per MONDO

Also identified as

• DOID 0111451 per MONDO
• OMIM 616230 per MONDO
• Orphanet 424027 per MONDO
• UMLS C5190825 per MONDO