GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: FEB8, INCLUDED
GEFSP3
GEFS+3 FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED
GEFS+, TYPE 3
Number of Symptoms 8
OrphanetNr:
OMIM Id: 611277
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:0007359) Focal seizures 27 / 7739
3
(HPO:0002373) Febrile seizures 37 / 7739
4
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
(HPO:0010819) Atonic seizures 18 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0003828) Variable expressivity 130 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually ...
Clinical Description OMIM - GEFS+ Type 3

Baulac et al. (2001) studied a family in which members in 3 successive generations had a phenotype consistent with GEFS+. Some had febrile seizures, others had afebrile epileptic seizures, and some had ...

Molecular genetics OMIM In affected members of a family with GEFS+, Baulac et al. (2001) identified a heterozygous mutation in the GABRG2 gene (K289M; 137164.0001). The mutation affected a highly conserved residue located in the extracellular loop between transmembrane segments M2 ...