SLC12A6 and Corpus callosum agenesis - neuronopathy: Loss-of-function mutations in human KCC3 cause the autosomal recessive disease Andermann syndrome (OMIM # 218000), characterized by agenesis of the corpus callosum, peripheral neuropathy (ACCPN), and seizures (Delpire and Mount, 2002; Howard et al., 2002; Uyanik et al., 2006).