myoclonic epilepsy of Lafora 2
MONDO:0800306Mondo
Findings
No curated finding names myoclonic epilepsy of Lafora 2 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 NHLRC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0800306), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Lafora bodiesHPOHP:0100318
- 4 of 4 reported patients
- MyoclonusHPOHP:0001336
- 17 of 17 reported patients
- Myoclonic seizureHPOHP:0032794
- 21 of 22 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 19 of 22 reported patients
- Progressive neurologic deteriorationHPOHP:0002344
- 18 of 22 reported patients
- Gait disturbanceHPOHP:0001288
- 8 of 14 reported patients
- DementiaHPOHP:0000726
Where it sits
- A kind of
Other names
4 names
Resolves to: myoclonic epilepsy of Lafora 2
- Also called
- epilepsy, progressive myoclonic, 2BEPM2BLafora disease 2MELF2