SNIP1 and epilepsy: Puffenberger et al (2012) previously described three Old Order Amish individuals with symptomatic epilepsy and skull dysplasia and identified a homozygous NM_024700.4:c.1097A>G, p.(Glu366Gly) variant in SNIP1 as the likely cause of the condition (autosomal recessive psychomotor retardation, epilepsy, and craniofacial dysmorphism; PMRED, MIM #614501) [12].