Familial temporal epilepsy
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
7
|
|
OrphanetNr:
|
98819
|
|
OMIM Id:
|
608096
611631
|
|
ICD-10:
|
|
|
UMLs:
|
C1842564
|
|
MeSH:
|
C536956
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Familial partial epilepsy
-Rare genetic disease
-Rare neurologic disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0002384)
|
Focal seizures with impairment of consciousness or awareness |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
3
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0002349)
|
Focal seizures without impairment of consciousness or awareness |
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
7
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |