Disorder "Lafora disease"
Found 1 record
Disorder information
Disorder name:
Lafora disease
Disoder ID:
OMIM entry:
Synonyms:
EPM2, Lafora progressive myoclonic epilepsy, Lafora's disease, PME type 2, myoclonic epilepsy of Lafora, progressive myoclonus epilepsy type 2, Progressive myoclonic epilepsy type 2, Progressive myoclonus epilepsy type 2, Lafora disease, progressive myoclonic epilepsy type 2
Definition:
Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered onset time and progression(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PPP1R3C | PPP1R3C:rs373998228 | Expressivity | Altered onset time and progression | Gene activity study | The mutation (c.746A>G, N249S) in the PPP1R3C gene that results in a decreased capacity to induce glycogen synthesis and a reduced interaction with glycogen phosphorylase and laforin,more | more |
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