Zhang YH, et al. – This study examined the phenotypic spectrum regarding generalized epilepsy with febrile seizures plus (GEFS+) in 409 affected individuals in 60 families (31 new families). Furthermore, it aimed to expand the GEFS+ spectrum. They proposed that GEFS+ ought to be renamed as genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus as 37 out of 409 (9%) affected individuals had focal epilepsies. The phenotypic overlap between GEFS+ and the classic generalized epilepsies was considerably greater than first thought. The clinical and molecular data suggested that the 2 major groups of generalized epilepsies shared genetic determinants.

• For this study, the physicians performed detailed electroclinical phenotyping on all available affected family members.
• They carried out genetic analysis of known GEFS+ genes where possible.
• They compared their phenotypic and genetic data to those published in the literature over the last 19 years.

• Within the GEFS+ spectrum, the physicians identified new phenotypes: focal seizures without preceding febrile seizures (16/409 [4%]), classic genetic generalized epilepsies (22/409 [5%]), and afebrile generalized tonic-clonic seizures (9/409 [2%]).
• In GEFS+, febrile seizures remained the most frequent phenotype (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]).
• As per the outcomes, 1/3^rd (50/163 [31%]) of GEFS+ families tested displayed a pathogenic variant in a known GEFS+ gene.