Here, we report on a boy with a 1.2 Mb deletion on 19p13.12–p13.13 encompassing several genes (Fig. 1), including the first exon of the gene CACNA1A, whose mutations and large-scale gene rearrangements are responsible for episodic ataxia or familial hemiplegic migraine [Labrum et al., 2009]. The gene discussed is CACNA1A; the disease is Familial paroxysmal ataxia.