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Items: 14

1.

A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.

Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J.

Mol Neurodegener. 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9.

2.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L.

Am J Med Genet A. 2016 Aug;170(8):2103-10. doi: 10.1002/ajmg.a.37765. Epub 2016 Jun 3.

PMID:
27256868
3.

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Sinajon P, Verbaan D, So J.

Hum Genet. 2016 Aug;135(8):841-50. doi: 10.1007/s00439-016-1675-5. Epub 2016 May 3. Review.

PMID:
27142213
4.

Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.

Coorg R, Weisenberg JL.

Pediatr Neurol. 2015 Dec;53(6):527-31. doi: 10.1016/j.pediatrneurol.2015.07.007. Epub 2015 Jul 22.

PMID:
26421989
5.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM.

Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19.

6.

Genetic disorders associated with postnatal microcephaly.

Seltzer LE, Paciorkowski AR.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Review.

PMID:
24839169
7.

If not Angelman, what is it? A review of Angelman-like syndromes.

Tan WH, Bird LM, Thibert RL, Williams CA.

Am J Med Genet A. 2014 Apr;164A(4):975-92. Review.

PMID:
24779060
8.

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E.

Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.

PMID:
24630051
9.

Christianson syndrome: spectrum of neuroimaging findings.

Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A.

Neuropediatrics. 2014 Aug;45(4):247-51. doi: 10.1055/s-0033-1363091. Epub 2013 Nov 27.

PMID:
24285247
10.

Novel SLC9A6 mutations in two families with Christianson syndrome.

Riess A, Rossier E, Krüger R, Dufke A, Beck-Woedl S, Horber V, Alber M, Gläser D, Riess O, Tzschach A.

Clin Genet. 2013 Jun;83(6):596-7. doi: 10.1111/j.1399-0004.2012.01948.x. Epub 2012 Aug 30. No abstract available.

PMID:
22931061
11.

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Mignot C, Héron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, Legall A, Billette de Villemeur T, Burglen L.

Brain Dev. 2013 Feb;35(2):172-6. doi: 10.1016/j.braindev.2012.03.010. Epub 2012 Apr 26.

PMID:
22541666
12.

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B.

Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19.

PMID:
21932316
13.

Natural history of Christianson syndrome.

Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE.

Am J Med Genet A. 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093.

14.

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P.

Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13.

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