progressive myoclonus epilepsy

Findings

No curated finding names progressive myoclonus epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary neurological disease
• myoclonic epilepsy
• variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration

Narrower terms (15)

• action myoclonus-renal failure syndrome
• early-onset Lafora body disease
• epilepsy, progressive myoclonic, 11
• epilepsy, progressive myoclonic, 12
• epilepsy, progressive myoclonic, 1B
• familial encephalopathy with neuroserpin inclusion bodies
• Lafora disease
• MERRF syndrome
• neuronal ceroid lipofuscinosis 8 northern epilepsy variant
• progressive myoclonic epilepsy type 3
• progressive myoclonic epilepsy type 6
• progressive myoclonic epilepsy type 7
• progressive myoclonic epilepsy type 8
• progressive myoclonic epilepsy type 9
• Unverricht-Lundborg syndrome

Resolves to: progressive myoclonus epilepsy

Also called

epilepsy, progressive myoclonicPMEprogressive myoclonic epilepsyprogressive myoclonic epilepsy (disorder) [ambiguous]