GFPT1 and epilepsy: In this study, we report five individuals from two unrelated Brazilian families with GFPT1-CMS caused by homozygous pathogenic variants in GFPT1, specifically the previously reported missense variant c.41G>A (p.Arg14Gln) (13) We describe an integrated assessment with muscle ultrasound, nerve conduction studies (NCS), and electromyography (EMG), highlighting the clinical and imaging spectrum, intrafamilial variability in disease severity, and possible novel features such as epilepsy.