Preferred Label : Generalized epilepsy with febrile seizures plus, type 1;
Symbol : GEFSP1;
CISMeF acronym : GEFSP1; GEFS 1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Gefs , type 1; GEFS 1;
Description : Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset of
febrile seizures, termed 'generalized epilepsy with febrile seizures plus' (GEFS ).
Classic febrile seizures (see, e.g., FEB1, 121210) affect approximately 3% of children
under 6 years of age and are by far the most common seizure disorder; classic febrile
seizures typically spontaneously remit by age 6 years. GEFS occurs in a small proportion
of children with febrile seizures who either have febrile seizures extending beyond
age 6 years or develop epilepsy with afebrile seizures. Patients with GEFS express
a highly variable phenotype combining febrile seizures, generalized seizures often
precipitated by fever at age 6 years or more, absence seizures, partial seizures,
myoclonic seizures, or atonic seizures, with a variable degree of severity (summary
by Wallace et al., 1998). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes
starting in the first year of life, and included a diagnostic algorithm. - Genetic
Heterogeneity of GEFS ;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the voltage-gated sodium channel, type I, beta subunit gene
(SCN1B, 600235.0001);
Prefixed ID : #604233;
Origin ID : 604233;
UMLS CUI : C1858672;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
