PubMed for id: 162893

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32765936,30868738,24341143,22462673,21628467,20020398,18566107,17893295,16606917,12872822,12838516,12661946,11885521,9280642,9058066,8292134,6329500,1668979,34706912,33323309,31439721,31160700,27230413,22971091,20390432,20352446,18536702,18342054,17659877,17215889,16736723,16682547,16098236,12368912,12107814,8554065,206332,33596149,28814402,28419508,27568057,23724134,21147077,20301546,16424367,8141196,37649161,37628618,37555967,37497920,37491272,37481904,37451886,37448106,37409888,37401095,37400800,37385458,37372405,37349768,37337674,37306961,37190898,37173814,37078131,37059440,37046037,36947133,36943622,36927364,36921175,36889039,36833258,36748384,36739862,36734326,36728747,36709937,36680497,36672867,36581364,36553517,36542484,36445597,36427979,36410285,36349561,36271814,36242072,36216272,36209351,36204920,36200388,36190439,36155026,36057781,36048137,36031490,36030575,35993408,35971119,35951005,35943828,35915025,35885948,35882622,35851401,35801292,35791610,35733399,35731353,35729663,35723632,35708058,35700637,35656878,35608644,35598262,35595399,35579625,35533685,35499143,35485770,35482004,35481434,35476093,35445792,35436645,35419654,35418194,35413293,35411553,35338003,35332675,35316582,35286047,35274783,35256455,35225164,35224818,35212467,35181024,35150851,35138025,35137563,35131262,35130357,35076917,34953645,34921505,34914080,34907638,34906466,34873726,34850608,34787370,34747197,34706719,34694367,34678594,34675106,34666706,34611884,34610637,34579981,34573379,34569664,34507670,34459558,34425235,34419634,34405433,34400773,34396852,34385359,34332267,34323022,34321398,34284163,34264147,34247371,34193621,34180430,34171079,34114613,34059423,34022837,34011608,34008862,33977792,33966746,33958710,33950863,33945466,33943041,33933664,33925166,33907211,33903225,33894126,33884451,33871356,33831796,33829936,33820834,33817732,33798452,33791923,33768696,33749998,33749989,33739616,33722742,33714239,33674710,33631091,33599186,33588214,33526656,33494996,33494995,33455493,33415589,33414056,33389762,33388042,33383187,33372375,33369052,33283548,33270637,33246910,33232677,33188503,33159882,33141514,33141444,33130023,33120733,33116110,33111505,33092935,33060130,33058507,33016209,32980538,32949109,32906187,32798292,32769066,32757322,32729136,32703609,32657950,32591344,32572202,32565546,32558422,32542401,32519823,32500375,32483275,32475352,32471643,32439809,32416898,32415109,32385905,32335883,32334137,32331522,32326241,32318771,32267100,32198973,32187602,32169460,32161024,32124548,32096284,32085672,32060908,32039787,32039780,32031333,32022998,32022405,31989799,31981384,31957011,31950080,31924697,31897943,31886593,31883643,31853710,31846209,31843706,31842800,31821692,31821167,31804259,31793730,31788662,31730271,31729153,31702014,31697046,31685615,31655922,31650526,31639841,31622028,31588536,31585109,31578829,31536828,31523922,31512363,31450992,31420595,31402626,31389602,31385551,31372974,31356216,31353810,31334757,31333218,31324307,31319424,31302917,31285555,31282990,31234783,31226715,31204721,31201073,31184778,31176769,31139689,31135624,31130048,31090814,31039582,31006513,31006510,30993762,30992180,30982608,30971556,30965333,30953504,30936464,30935671,30933046,30905399,30894326,30887539,30855487,30854657,30847374,30810593,30806141,30787447,30770273,30702069,30680856,30637988,30622331,30595068,30585108,30555080,30548146,30545546,30536540,30534844,30508070,30467354,30392794,30391508,30388402,30345727,30298599,30295933,30244542,30204965,30197418,30195458,30182445,30182442,30182441,30181650,30152144,30144507,30114309,30039880,30028002,30024536,30016746,30006259,30001929,29992973,29992659,29966135,29952037,29916093,29907476,29902800,29902589,29897170,29883675,29862581,29785796,29771000,29770994,29770992,29761634,29749690,29718187,29695797,29681093,29681083,29626178,29584859,29573576,29571850,29547997,29532936,29518772,29485807,29483251,29465889,29463858,29449720,29442327,29410513,29398271,29396836,29391420,29388841,29383837,29371155,29366908,29366874,29361379,29355528,29321670,29278894,29278735,29277257,29265763,29246775,29246610,29199884,29191162,29175559,29137918,29136354,29136349,29130579,29130507,29130391,29120338,29068161,29042446,28971531,28967789,28946151,28941020,28921563,28900819,28893434,28859335,28847448,28825856,28815871,28815864,28807008,28802308,28800946,28784167,28748650,28742278,28719236,28696035,28694071,28677295,28670735,28647557,28642160,28640243,28624465,28615637,28583501,28573701,28562508,28544239,28525974,28513610[uid]

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A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.

Al Shibli N, Al-Maawali A, Elmanzalawy A, Al-Nabhani M, Koul R, Gabr A, Al Murshedi F. Al Shibli N, et al. J Pediatr Genet. 2020 Dec;9(4):293-295. doi: 10.1055/s-0039-1700975. Epub 2020 Jan 6. J Pediatr Genet. 2020. PMID: 32765936 Free PMC article.

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

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan AO. Degerliyurt A, et al. Genet Couns. 2013;24(3):283-9. Genet Couns. 2013. PMID: 24341143

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

Lourenço CM, Dupré N, Rivière JB, Rouleau GA, Marques VD, Genari AB, Santos AC, Barreira AA, Marques W Jr. Lourenço CM, et al. J Peripher Nerv Syst. 2012 Mar;17(1):123-7. doi: 10.1111/j.1529-8027.2012.00374.x. J Peripher Nerv Syst. 2012. PMID: 22462673

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA. Salin-Cantegrel A, et al. J Biol Chem. 2011 Aug 12;286(32):28456-65. doi: 10.1074/jbc.M111.226894. Epub 2011 May 31. J Biol Chem. 2011. PMID: 21628467 Free PMC article.

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.

Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K. Rudnik-Schöneborn S, et al. Neuropediatrics. 2009 Jun;40(3):129-33. doi: 10.1055/s-0029-1234084. Epub 2009 Dec 17. Neuropediatrics. 2009. PMID: 20020398

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

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. Salin-Cantegrel A, et al. Hum Mol Genet. 2008 Sep 1;17(17):2703-11. doi: 10.1093/hmg/ddn172. Epub 2008 Jun 19. Hum Mol Genet. 2008. PMID: 18566107

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.

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. Salin-Cantegrel A, et al. Neurology. 2007 Sep 25;69(13):1350-5. doi: 10.1212/01.wnl.0000291779.35643.15. Neurology. 2007. PMID: 17893295

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

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. Uyanik G, et al. Neurology. 2006 Apr 11;66(7):1044-8. doi: 10.1212/01.wnl.0000204181.31175.8b. Neurology. 2006. PMID: 16606917

Do we consider Andermann syndrome in infants with agenesis of corpus callosum.

Deda G, Caksen H, Içağasioğlu D. Deda G, et al. Genet Couns. 2003;14(2):249-52. Genet Couns. 2003. PMID: 12872822

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