Abstract: Next generations sequencing (NGS) is definitely one of the most revolutionary technology of the last years in genetic and medical field (Kricka and Di Resta, 2013). It brought important changes in genetic testing of inherited human disorders, in particular in neurological Mendelian forms, such as inherited neuropathies, ataxias or monogenic form of epilepsy, where “diagnostic odyssey” is quite common. This term refers to the single-gene test approach where patients are evaluated by multiple providers, sometimes for years, without a genetic diagnosis (Di Resta et al., 2018). Indeed, in the Sanger sequencing era, neurologists were quite frustrated by the low diagnostic yield obtained by testing selected candidate genes, also due to the difficulties in differentiating genetic forms from acquired one, having the same clinical manifestations. In this context, clinicians had to pick a candidate gene to analyze and the gene-by-gene sequencing approach was not economical or efficient (Di Resta et al., 2018).