SNAP25 and aceruloplasminemia: Moreover, in 2018, a novel missense SNAP25 variant [p.Arg59Pro (c.176G>C)] inherited from the mosaic father was described by Fukuda et al. in two affected siblings (a female and a male) showing seizures and motor clumsiness; the female also presented delayed speech, cerebellar ataxia, hypotonia, learning disabilities, and ADHD [42].