Preferred Label : Generalized epilepsy with febrile seizures plus, type 7;
Symbol : GEFSP7;
CISMeF acronym : FEB3B; GEFSP7; GEFS 7;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Gefs , type 7; GEFS 7;
Included titles and symbols : Febrile seizures, familial, 3b; FEB3B;
Description : 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 have onset between ages 5 months to 4 years and show spontaneous remission
by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS continue
to have various types of febrile and afebrile seizures later in life (summary by Singh
et al., 1999). 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 sodium channel, voltage-gated, type IX, alpha subunit gene
(SCN9A, 603415.0018);
Prefixed ID : %613863;
Origin ID : 613863;
UMLS CUI : C2751778;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
