Furthermore, CACNA1A mutations have recently been identified in subjects with early infantile epileptic encephalopathy 42 (EIEE42, MIM#617106), developmental delay, intellectual impairment, autism, and episodic events, such as benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), benign paroxysmal tonic upgaze (PTU) (2, 3), which give us the impression that CACNA1A variants are associated with a wide phenotypic spectrum. The gene discussed is CACNA1A; the disease is developmental and epileptic encephalopathy, 42.