MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4

General Information (adopted from Orphanet):

Synonyms, Signs: EJM4
Number of Symptoms 4
OrphanetNr:
OMIM Id: 611364
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
2
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) EEG shows generalized polyspike and wave discharges (4-5 Hz) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kapoor et al. (2007) reported a family from southern India in which 8 individuals had juvenile myoclonic epilepsy inherited in an autosomal dominant pattern. The proband was a 32-year-old woman who developed morning myoclonic jerks at age 14 ...