CACNA1A and epilepsy: Previous studies have showed that the clinical phenotypes caused by CACNA1A mutations comprises a huge group of phenotypic heterogeneity, such as EA2, FHM1, SCA6, and DEE42 that was a severe form of epilepsy (Ophoff et al., 1996; Jodice et al., 1997; Zhuchenko et al., 1997; Terwindt et al., 2002; Jen et al., 2007; Rajakulendran et al., 2012; Allen et al., 2013; Epi4k Consortium, 2016).