“…To date, pathogenic variants in the GABRG2 gene, including 11 truncating variants (four nonsense, four frame-shifts, two splice-sites, and one large deletion) and 16 missense variants, have been reported in a subset of families and individuals with a variety of phenotypes ranging from epileptic encephalopathies (including Dravet syndrome) to genetic (generalized) epilepsy with febrile seizures plus (GEFS+), to febrile seizures associated with childhood absence epilepsy (CAE) and milder simple febrile seizures (FS) (Baulac et al, 2001; Wallace et al, 2001; Harkin et al, 2002; Kananura et al, 2002; Audenaert et al, 2006; Hirose, 2006; Sun et al, 2008; Macdonald et al, 2010; Shi et al, 2010; Cantarín-Extremera et al, 2011; Lachance-Touchette et al, 2011; Balan et al, 2013; Carvill et al, 2013; Tian et al, 2013; Johnston et al, 2014; Boillot et al, 2015; Reinthaler et al, 2015; Shen et al, 2017). In these studies, the majority of pathogenic variants in GABRG2 segregated predominantly with a FS phenotype.…”