SVs in CACNA1A have been associated with a variety of neurological disorders including episodic ataxia type 2, familial hemiplegic migraine, spinocerebellar ataxia type 6 (SCA6), and various anatomical distributions of dystonia such as benign paroxysmal torticollis of infancy and BSP (Naik, Pohl, Malik, Siddiqui, & Josifova, 2011; Sethi & Jankovic, 2002; Shin, Douglass, Milunsky, & Rosman, 2016; Spacey, Materek, Szczygielski, & Bird, 2005; Thomsen et al., 2008). This evidence concerns the gene CACNA1A and episodic ataxia type 2.