Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 10;
Symbol : EIG10;
CISMeF acronym : EIG10; EJM7; GEFS5;
Type : Phenotype, molecular basis known;
Included titles and symbols : Generalized epilepsy with febrile seizures plus, type 5, susceptibility to; Gefs , type 5, susceptibility to; Gefs 5, susceptibility to; GEFSP5;
Description : Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common
seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile
absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on
Classification and Terminology of the International League Against Epilepsy, 1989).
Generalized epilepsy with febrile seizures plus (GEFS ) shows phenotypic overlap with
IGE, and includes patients with early-onset febrile seizures who later develop various
types of febrile and afebrile seizures, such as those observed in EIG (summary by
Singh et al., 1999). For a general phenotypic description and a discussion of genetic
heterogeneity of EIG, see 600669. For a general phenotypic description and a discussion
of genetic heterogeneity of GEFS , see 604233.;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the gamma-aminobutyric acid receptor, delta
gene (GABRD, 137163.0001);
Prefixed ID : #613060;
Origin ID : 613060;
UMLS CUI : C2751603;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- Validated automatic mappings to NTBT
