In addition to these three disorders, CACNA1A variants have been associated with epilepsy and several other neurologic manifestations, including global developmental delay, hypotonia, and cerebellar hypoplasia, highlighting the incredibly diverse variability in phenotype resulting from genetic alterations in this gene (Byers et al., 2016; Liu et al., 2018; Luo et al., 2017). The gene discussed is CACNA1A; the disease is Global developmental delay.