VAMP2 and epilepsy: Furthermore, Sunaga et al. [39] reported a heterozygous missense variant in VAMP2 (c.199G>C, p.Ala67Pro) in an 8-year-old male with a severe neurological phenotype involving hypotonia and no visual pursuit, severe intellectual and motor disability (non-verbal, absence of purposeful hand movements, and a bedridden state), hyperkinetic movement, epilepsy and marked EEG abnormality.