FEBRILE SEIZURES, FAMILIAL, 4

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, FAMILIAL FEBRILE, 4
FEB4
Number of Symptoms 12
OrphanetNr:
OMIM Id: 604352
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0010819) Atonic seizures 18 / 7739
3
(HPO:0010818) Generalized tonic seizures 8 / 7739
4
(HPO:0002373) Febrile seizures 37 / 7739
5
(OMIM) Seizures usually last less than 15 minutes 5 / 7739
6
(OMIM) Seizures recur in 33% of patients 6 / 7739
7
(HPO:0003593) Infantile onset 249 / 7739
8
(HPO:0011463) Childhood onset 65 / 7739
9
(OMIM) Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause 6 / 7739
10
(OMIM) Between 2 and 7% of children will develop afebrile seizure disorders later in life 6 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Patients show normal psychomotor development 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Because mutation in the mouse Mass1 gene was found to be the cause of audiogenic seizure susceptibility in the Frings mouse strain, Nakayama et al. (2002) screened for mutations in the GPR98, or MASS1, gene in individuals from ...