CLCN6 and infantile neuronal ceroid lipofuscinosis: Clcn6−/− knockout mice showed mild neuronal lysosomal storage disease (Poet et al., 2006), resembling the phenotype observed in two patients carrying ClC-6 heterozygous missense mutations (V580M and T628R) and affected by neuronal ceroid lipofuscinosis (NCL) (Poet et al., 2006).