FEBRILE SEIZURES, FAMILIAL, 6
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
CONVULSIONS, FAMILIAL FEBRILE, 6
FEB6
|
|
Number of Symptoms
|
11
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
609253
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Autosomal dominant inheritance
[Omim]
|
|
Age of onset:
|
Childhood onset
[Omim]
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0010818)
|
Generalized tonic seizures |
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0010819)
|
Atonic seizures |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
6
|
(OMIM)
|
Seizures usually last less than 15 minutes |
|
|
|
|
5 / 7739
|
|
7
|
(OMIM)
|
Between 2 and 7% of children will develop afebrile seizure disorders later in life |
|
|
|
|
6 / 7739
|
|
8
|
(OMIM)
|
Patients show normal psychomotor development |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|
|
10
|
(OMIM)
|
Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause |
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Seizures recur in 33% of patients |
|
|
|
|
6 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |