After the initial description of the syndrome by Van Dyke and colleagues in 1975 [47], genetic linkage studies localized the episodic ataxia type 1 [EA1; OMIM 160120] locus to chromosome 12p13 [48] and subsequently, mutations in single exon KCNA1 gene have been identified as the underlying cause of EA1 [49,50]. This evidence concerns the gene KCNA1 and episodic ataxia type 1.