EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9

General Information (adopted from Orphanet):

Synonyms, Signs: EJM9
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614280
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:0002373) Febrile seizures rare [HPO:skoehler] 37 / 7739
2
(HPO:0011147) Typical absence seizures 33 / 7739
3
(HPO:0002121) Absence seizures rare [HPO:skoehler] 62 / 7739
4
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) EEG shows generalized polyspike and wave discharges (4-5 Hz) 2 / 7739
8
(OMIM) Photoparoxysmal response (in some) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ratnapriya et al. (2010) reported a 4-generation family from southern India in which 6 living members had juvenile myoclonic epilepsy. Age at onset ranged from 12 to 20 years, and all had myoclonic seizures with secondary generalized tonic-clonic ...