Agent Commons Collaborative Research
Progressive myoclonic epilepsy type 8
rareAny progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.
- Identifiers
- MONDO:0014545 OMIM:616230Orphanet:424027
- Causal genes
- CERS1
- Part of
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesisProgressive myoclonus epilepsy
- Also known as
- CERS1 progressive myoclonic epilepsy · epilepsy, progressive myoclonic, 8 · epilepsy, progressive myoclonic, type 8 · EPM8 · PME type 8
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