progressive myoclonic epilepsy type 8
Findings
No curated finding names progressive myoclonic epilepsy type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014545), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Action myoclonusHPOHP:0034360
- 5 of 5 reported patients
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- 5 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 5 reported patients
- Cerebellar atrophyHPOHP:0001272
- 4 of 4 reported patients
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DementiaHPO
Show the remaining 5
- MyoclonusHPOHP:0001336
- 5 of 5 reported patients
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Progressive neurologic deteriorationHPOHP:0002344
- 4 of 4 reported patients
- Truncal ataxiaHPOHP:0002078
- 1 of 1 reported patient
- EEG with photoparoxysmal responseHPOHP:0010852
- 2 of 4 reported patients
Genes
1 gene
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.
- CERS1HGNC:14253
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
7 names
Resolves to: progressive myoclonic epilepsy type 8
- Also called
- CERS1 progressive myoclonic epilepsyepilepsy, progressive myoclonic, type 8EPM8PME type 8progressive myoclonic epilepsy caused by mutation in CERS1progressive myoclonic epilepsy due to CERS1 deficiencyprogressive myoclonus epilepsy type 8