Disorder "Generalized Seizures"
Found 1 record
Disorder information
Disorder name:
Generalized Seizures
Disoder ID:
Definition:
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CACNB4 | CACNB4:p.Arg468Gln | Expressivity | Altered severity | Pedigree analysis | CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancymore | more |
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