Fig. 1.

Pedigree of the family studied. a Four siblings suffering from focal epilepsy with onset in the first decade of life are indicated with different patterns indicating variability in epileptic phenotype. b Sanger sequencing of FGD6 p.E276G variant, where it is observed heterozygosity in asymptomatic siblings and parents and homozygosity in symptomatic siblings. c Representative capture of WES alignment where the FGD6 variant was first identified in both elder symptomatic siblings