| 1 | CASK, MICPCH
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| CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
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| Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.
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| Epilepsia 53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18.
2012
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| 2 | CASK, MICPCH
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| Phenotypic spectrum associated with CASK loss-of-function mutations.
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| Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G.
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| J Med Genet 48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27.
2011
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| 3 | CASK, MICPCH
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| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
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| Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE.
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| Eur J Hum Genet 18(5):544-52. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552. PMID: 20029458 2010
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| 4 | CASK, GPR34, GPR82, MICPCH, RELN, TBR1
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| An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development.
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| Bailey KA, Aldinger KA.
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| Clin Genet 75(5):424-5. No abstract available. 2009
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| 5 | CASK, MICPCH, TBR1
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| Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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| Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K.
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| Nat Genet at Genet. 2008 Aug 10. [Epub ahead of print] 2008
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