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generalized epilepsy with febrile seizures (GEFS)
Epidemiology: rare
Genetics:
- autosomal dominant, with incomplete penetrance & large intrafamilial variability
- mutations in SCN1B gene associated with type 1
- mutations in SCN1A gene associated with type 2
- mutations in GABRG2 gene associated with type 3
- defects in GABRD gene associated with type 5
- defects in SCN2A gene associated with plus syndrone (GEFS+)
Clinical manifestations:
- febrile seizures before age 6, progressing to generalized epilepsy
- GEFS+ combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, & partial seizures, with a variable degree of severity
Related
Na+ channel protein type 5 subunit alpha; Na+ channel protein type V subunit alpha; voltage-gated Na+ channel subunit alpha Nav1.5; Na+ channel protein cardiac muscle subunit alpha; HH1 (SCN5A)
General
epilepsy
genetic disease of the central nervous system
Database Correlations
OMIM 604233
References
OMIM :accession 604233