Preferred Label : Febrile seizures, familial, 1;
Symbol : FEB1;
CISMeF acronym : FEB1;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Convulsions, familial febrile, 1;
Description : Childhood seizures associated with febrile episodes are relatively common and represent
the majority of childhood seizures. A febrile convulsion is defined as a seizure event
in infancy or childhood, usually occurring between 6 months and 6 years of age, associated
with fever but without any evidence of intracranial infection or defined pathologic
or traumatic cause (Nabbout et al., 2002). Although the majority of patients do not
develop epilepsy, the risk of developing subsequent afebrile seizures is 5 to 7 times
higher in those with a history of febrile seizures compared to the general population
(Annegers et al., 1987; Hedera et al., 2006). The FEB1 locus maps to chromosome 8q13-q21.
- Genetic Heterogeneity of Familial Febrile Seizures FEB3A (604403) is caused by mutation
in the SCN1A gene (182389) on chromosome 2q24; FEB3B (see 604403) is caused by mutation
in the SCN9A gene (603415) on chromosome 2q24; FEB4 (604352) is caused by mutation
in the GPR98 gene (602851) on chromosome 5q14; FEB8 (611277) is caused by mutation
in the GABRG2 gene (137164) on chromosome 5q31; and FEB11 (614418) is caused by mutation
in the CPA6 gene (609562) on chromosome 8q13. Several loci for familial febrile seizures
have been identified: see FEB2 (602477) on chromosome 19p, FEB5 (609255) on chromosome
6q, FEB6 (609253) on chromosome 18p, FEB7 (611515) on chromosome 21q22, FEB9 (611634)
on chromosome 3p24.2-p23, and FEB10 (612637) on chromosome 3q26. A phenotype termed
'generalized epilepsy with febrile seizures plus' (GEFS ; 604233) is a clinical subset
of familial febrile convulsions in which affected individuals later develop afebrile
seizures. GEFS is associated with mutations in several genes. Deprez et al. (2009)
provided a review of the genetics of epilepsy syndromes starting in the first year
of life, and included a diagnostic algorithm.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member
2 gene (KCNQ2, 602235.0001);
Prefixed ID : %121210;
Origin ID : 121210;
UMLS CUI : C1852577;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)