Progressive myoclonic epilepsy type 6

Definition

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.

Also known as epilepsy, progressive myoclonic 6, epilepsy, progressive myoclonic, type 6, EPM6, GOSR2 progressive myoclonic epilepsy, GOSR2-related progressive myoclonus ataxia, North Sea progressive myoclonus epilepsy, PME type 6, progressive myoclonic epilepsy caused by mutation in GOSR2, progressive myoclonus epilepsy type 6 — per MONDO

Also identified as

• DOID 0111449 per MONDO
• OMIM 614018 per MONDO
• Orphanet 280620 per MONDO
• UMLS C5190805 per MONDO