Preferred Label : Generalized epilepsy with febrile seizures plus, type 3;
Obsolete resource : true;
Moved to : 607681;
Symbol : GEFSP3;
CISMeF acronym : FEB8; GEFSP3; GEFS 3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Gefs , type 3; GEFS 3;
Included titles and symbols : Febrile seizures, familial, 8; FEB8;
Description : 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 have onset in the first year of life and show spontaneous remission by age
6 years, whereas patients with GEFS continue to have various types of febrile and
afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2
gene can also cause childhood absence epilepsy (ECA2; 607681). Mutations in certain
genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype
and the GEFS phenotype. For a general phenotypic description and a discussion of
genetic heterogeneity of GEFS , see 604233. For a phenotypic description and a discussion
of genetic heterogeneity of familial febrile seizures, see 121210.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the gamma-aminobutyric acid (GABA) A receptor, gamma-2 gene
(GABRG2, 137164.0001);
Prefixed ID : 611277;
Origin ID : 611277;
UMLS CUI : C1858674;
Currated CISMeF NLP mapping
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
