The use of next-generation sequencing to unravel new genes: overcoming challenges posed by rare neurological disorders such as myoclonus-dystonia.

: The revolution in next-generation sequencing has brought to light detailed catalogues of genetic variation in both disease patients and the general population (1). As such, when patients with rare neurological disorders of genetic origin are identified and put through a meticulous examination, genetic testing can yield a molecular diagnosis in about 40% of cases, and in some instances 94% (2). The challenge at hand is to maintain high academic standards in our pursuit of new disease-causing variants and effectively distinguish them from rare, potentially functional variants.