CLCN4 and Epileptic encephalopathy: In 2017, Lin et al. reported an epileptic encephalopathy patient who had DYNC1H1 mutation through analysis of the interaction network of DYNC1H1, which showed that DYNC1H1 interacts with many epilepsy genes, such as TBC1D24, ALDH7A1, MECP2, DEPDC5, SGCE, GRIN2B, ATP1A2, MYO5A, NBEA, CLCN4, IFT172, UBE3A, PCDH19, KCNQ3, and so on.