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

More general terms

• epilepsy
• genetic disease of the central nervous system

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/604233