TAPERTM was therefore successfully used to identify the same variants that had previously been implicated in specific diseases; FBOX7 (L34R) and PARK2 (R275W and M432V) in Parkinson’s Disease (PD); SLC1A4 (E256K) in intellectual disability and microcephaly and KCNA2 (R297Q) in ataxia and myoclonic epilepsy (Table 1). Here, PRKN is linked to myoclonic epilepsy.