GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7

General Information (adopted from Orphanet):

Synonyms, Signs: FEB3B, INCLUDED
GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B, INCLUDED
GEFS+, TYPE 7
GEFSP7
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613863
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:0002121) Absence seizures 62 / 7739
2
(HPO:0002373) Febrile seizures 37 / 7739
3
(HPO:0010819) Atonic seizures 18 / 7739
4
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0007359) Focal seizures 27 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the SCN9A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 7, which represents a more severe phenotype. Patients with isolated febrile seizures usually ...
Clinical Description OMIM Singh et al. (2009) studied a large Utah family with autosomal dominant GEFS+. The family was originally reported by Peiffer et al. (1999) as having predominantly febrile seizures, which was mapped to a locus on chromosome 2q24 designated ...
Molecular genetics OMIM In affected members of a large Utah family with generalized epilepsy with febrile seizures plus, type 7, originally reported by (Peiffer et al., 1999), Singh et al. (2009) identified a heterozygous mutation in the SCN9A gene (N641Y; 603415.0018) ...