Mutations within CaBP4 are associated with a range of neuronal pathologies, such as congenital stationary night blindness [150,151,152], cone–rod dystrophy [151,152,153,154,155,156,157,158,159,160,161,162], and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) [163,164] (Figure 7a). Here, CABP4 is linked to autosomal dominant nocturnal frontal lobe epilepsy.