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First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
Pacheva I, Todorov T, Halil Z, Yordanova R, Todorova A, Geneva I, Galabova F, Ivanov I. Pacheva I, et al. Am J Med Genet A. 2019 Jun;179(6):1020-1024. doi: 10.1002/ajmg.a.61110. Epub 2019 Mar 13. Am J Med Genet A. 2019. PMID: 30868738
Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. ...We present an 8-month-old infant of Roma ethnic orig …
Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with earl …
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.
Løseth S, Høyer H, Le KM, Delpire E, Kinge E, Lande A, Hilmarsen HT, Fagerheim T, Nilssen Ø, Braathen GJ. Løseth S, et al. Brain. 2023 Mar 1;146(3):912-922. doi: 10.1093/brain/awac488. Brain. 2023. PMID: 36542484 Free PMC article.
Clinical and neurophysiological evaluations revealed a predominant sensory axonal polyneuropathy with slight to moderate motor components. In all 10 patients the identical SLC12A6 missense variant, NM_001365088.1 c.1655G>A p.(Gly552Asp), was identified. For functional c …
Clinical and neurophysiological evaluations revealed a predominant sensory axonal polyneuropathy with slight to moderate motor components. I …
Molecular mimicry may explain multi-organ damage in COVID-19.
Angileri F, Legare S, Marino Gammazza A, Conway de Macario E, Jl Macario A, Cappello F. Angileri F, et al. Autoimmun Rev. 2020 Aug;19(8):102591. doi: 10.1016/j.autrev.2020.102591. Epub 2020 Jun 11. Autoimmun Rev. 2020. PMID: 32535095 Free PMC article. No abstract available.
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Takei J, Takeuchi M, Hiramatsu Y, Shimizu F, Kubota M, Takeshima A, Ueda T, Koh K, Nagaoka U, Tokashiki T, Sawai S, Sakiyama Y, Hashiguchi A, Sato R, Kanda T, Okamoto Y, Takashima H. Ando M, et al. Ann Clin Transl Neurol. 2022 Jul;9(7):902-911. doi: 10.1002/acn3.51603. Epub 2022 Jun 22. Ann Clin Transl Neurol. 2022. PMID: 35733399 Free PMC article.
BACKGROUND: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. ...Here, we aim to describe the clinical and mutation spectra of SLC12A6-related Charcot-Marie-Tooth (CMT) disease in Japanese pa …
BACKGROUND: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callos …
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Rius R, González-Del Angel A, Velázquez-Aragón JA, Cordero-Guzmán LM, Muñoz-Hernández SE, Alcántara-Ortigoza MA. Rius R, et al. Neurol India. 2018 Jul-Aug;66(4):1162-1165. doi: 10.4103/0028-3886.236987. Neurol India. 2018. PMID: 30038111 Free article. No abstract available.
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, Alhedaithy A, Alamr M, Bawazir M, Mohammad S, Abdelhay S, Bashir S, Housawi Y. Mir A, et al. Hum Genet. 2022 Jan;141(1):81-99. doi: 10.1007/s00439-021-02404-x. Epub 2021 Nov 19. Hum Genet. 2022. PMID: 34797406
We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC27A4, SLC45A1, SLC46A1, and SLC52A3. Eight patients harbored path …
We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, …
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.
Van Poucke M, Stee K, Sonck L, Stock E, Bosseler L, Van Dorpe J, Van Nieuwerburgh F, Deforce D, Peelman LJ, Van Ham L, Bhatti SFM, Broeckx BJG. Van Poucke M, et al. Eur J Hum Genet. 2019 Oct;27(10):1561-1568. doi: 10.1038/s41431-019-0432-3. Epub 2019 Jun 3. Eur J Hum Genet. 2019. PMID: 31160700 Free PMC article.
This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois. In humans, SLC12A6 variants cause "agenesis of the corpus c …
This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 56 …
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB. Park J, et al. J Med Genet. 2020 Apr;57(4):283-288. doi: 10.1136/jmedgenet-2019-106273. Epub 2019 Aug 22. J Med Genet. 2020. PMID: 31439721 Free PMC article.
We identified heterozygous de novo variants in SLC12A6 in three unrelated patients with intermediate CMT. METHODS: We evaluated the clinical reports and electrophysiological data of three patients carrying de novo variants in SLC12A6 identified by diagnostic trio ex …
We identified heterozygous de novo variants in SLC12A6 in three unrelated patients with intermediate CMT. METHODS: We evaluated the c …
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT. Jin SC, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e892. doi: 10.1002/mgg3.892. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31393094 Free PMC article. Clinical Trial.
RESULTS: A novel inherited protein-damaging mutation (p.Pro605Leu) in SLC12A6, encoding the K(+) -Cl(-) cotransporter KCC3, was identified in both affected members of multiplex kindred CHYD110. p.Pro605 is conserved in KCC3 orthologs and among all human KCC p …
RESULTS: A novel inherited protein-damaging mutation (p.Pro605Leu) in SLC12A6, encoding the K(+) -Cl(-) cotransporter KCC3, wa …
24 results