GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4

General Information (adopted from Orphanet):

Synonyms, Signs: GEFSP4
GEFS+, TYPE 4
GEFS+4
Number of Symptoms 7
OrphanetNr:
OMIM Id: 609800
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 37 / 7739
2
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
3
(OMIM) Seizures usually last less than 15 minutes 5 / 7739
4
(OMIM) Patients show normal psychomotor development 7 / 7739
5
(OMIM) Some patients may develop afebrile seizures later in life 1 / 7739
6
(OMIM) Seizures usually occur less than 3 times 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Audenaert et al. (2005) reported a 4-generation Belgian family with febrile seizures and epilepsy compatible with GEFS+. Eight patients had seizures associated with fevers, but none developed epilepsy later in life. The febrile seizures occurred between ages 6 ...