Considering the individuals described in Table 3 (apart from Patient No. 20 with NPC): The first patient was patient No. 100, with a plasma 3β,5α,6β-triOH-Gly of 165 nM, who was heterozygous for a likely pathogenic mutation in CACNA1A [c.2636_2652dup p.(Ala885Thrfs*14)], indicating a diagnosis of episodic ataxia type 2 (EA2). The gene discussed is CACNA1A; the disease is Familial paroxysmal ataxia.