epilepsy, progressive myoclonic, 1B
Findings
No curated finding names epilepsy, progressive myoclonic, 1B 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 PRICKLE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012904), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
3 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.
- AtaxiaHPOHP:0001251
- Generalized myoclonic seizureHPOHP:0002123
- MyoclonusHPOHP:0001336
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.
- PRICKLE1HGNC:17019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: epilepsy, progressive myoclonic, 1B
- Also called
- epilepsy, progressive myoclonic 1Bepilepsy, progressive myoclonic, type 1BPRICKLE1 progressive myoclonic epilepsyprogressive myoclonic epilepsy caused by mutation in PRICKLE1