For example, Trudeau et al. identified a patient with a maternally inherited heterozygous truncation in SCN8A who presented with cognitive and motor deficits (Trudeau et al., 2006), and Berghuis et al. identified an individual with absence epilepsy, developmental delay, aggression, and attention problems who had a paternally inherited deletion of SCN8A exons 2–14 and a maternally inherited missense variant (p.I1583T) (Berghuis et al., 2015). The gene discussed is SCN8A; the disease is Global developmental delay.