| 1 | ACCPN, SLC12A6
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| De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
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| 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.
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| J Med Genet. Apr;57(4):283-288. doi: 10.1136/jmedgenet-2019-106273. Epub 2019 Aug 22. 2020
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| 2 | ACCPN, SLC12a6
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| A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum
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| Al Shibli N, Al-Maawali A, Elmanzalawy A, Al-Nabhani M, Koul R, Gabr A, Al Murshedi F.
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| J Pediatr Genet. Dec;9(4):293-295. doi: 10.1055/s-0039-1700975. Epub 2020 Jan 6. 2020
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| 3 | ACCPN, SLC12A6
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| KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
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| Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F.
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| Neurobiol Dis. Oct;106:35-48. doi: 10.1016/j.nbd.2017.06.013. Epub 2017 Jun 21 2017
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| 4 | ACCPN, SLC12A6
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| HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
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| Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA.
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| Hum Mol Genet 17(17):2703-11. Epub 2008 Jun 19.
2008
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| 5 | ACCPN, SLC12A6
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| Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
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| Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA.
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| Neurology 69(13):1350-5.PMID: 17893295 2007
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| 6 | SLC12A6, ACCPN
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| Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
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| Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J.
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| Neurology 66(7):1044-8. Erratum in: Neurology. 2006 Oct 24;67(8):1528. 2006
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| 7 | ACCPN, SLC12A6
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| Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
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| Boettger T, Rust MB, Maier H, Seidenbecher T, Schweizer M, Keating DJ, Faulhaber J, Ehmke H, Pfeffer C, Scheel O, Lemcke B, Horst J, Leuwer R, Pape HC, Volkl H, Hubner CA, Jentsch TJ.
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| EMBO J 22(20):5422-34. 2003
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| 8 | ACCPN
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| Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.
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| Howard HC, Dube MP, Prevost C, Bouchard JP, Mathieu J, Rouleau GA.
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| Eur J Hum Genet 10(7):406-12. 2002
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| 9 | ACCPN, SLC12A6
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| The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
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| Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA.
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| Nat Genet 32(3):384-92. 2002
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| 10 | ACCPN
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| The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.
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| Casaubon LK, et al.
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| Am J Hum Genet 58 : 28-34. 1996
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