Since this also represents the first report of a genetic disorder involving a neuronal-specific ECM proteoglycan, we suggest that BCAN and NCAN should be considered as candidate genes for genetic analysis in unresolved cases of human disorders with similar clinical presentations to EFS, such as paroxysmal exercise-induced dyskinesias (Weber and Lerche, 2009) or episodic ataxias (Tomlinson et al., 2009). This evidence concerns the gene BCAN and hereditary disease.