generalized epilepsy with febrile seizures
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GEFS
The GEFS phenotype may be caused by mutation in several genes.
Mutation in the voltage-gated sodium channel beta-1 subunit gene (SCN1B) (MIM.600235) on 19q13 causes GEFS+ type 1.
Mutation in the SCN1A gene (MIM.182389) on 2q24 causes GEFS+ type 2.
Mutation in the GABRG2 gene (MIM.137164) on 5q31.1-q33.1 causes GEFS+ type 3.
Mutation in the GABRD (MIM.137163) gene can cause GEFS+ type 5.
Mutation in the SCN2A (MIM.182390) gene causes febrile seizures associated with afebrile seizures.