Autosomal recessive disorder:
Dupre N et al. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. 2003;54(1):9-18. PMID:12838516.
Howard HC et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002;32(3):384-92. PMID:12368912.
Rudnik-Schoneborn S et al. Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. Neuropediatrics. 2009;40(3):129-33. PMID:20020398.
Uyanik G et al. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology. 2006;66(7):1044-8. PMID:16606917.
Autosomal dominant disorder:
Kahle KT et al. Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal. 2016;9(439):ra77. PMID:27485015.
Park J et al. De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. J Med Genet. 2020;57(4):283-288. PMID:31439721.
Shi J et al. Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy. Neuromuscul Disord. 2021;31(2):149-157. PMID: 33323309.
Jin SC et al. SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. Mol Genet Genomic Med. 2019;7(9):e892. PMID: 31393094.
SLC12A6