He was recently found to have a pathogenic variant (c.835C>T;p.Arg279Cys) in CACNA1A (RefSeq NM_001127222.1; OMIM 601011), and thus diagnosed with episodic ataxia, type 2 (EA2; OMIM 108500), an autosomal dominant condition. This evidence concerns the gene CACNA1A and episodic ataxia type 2.