myoclonic epilepsy of Lafora 1
MONDO:0958199Mondo
Findings
No curated finding names myoclonic epilepsy of Lafora 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.
Definition from the Mondo Disease Ontology (MONDO:0958199), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- Lafora bodiesHPOHP:0100318
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.
- NHLRC1HGNC:21576
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of