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Page 1
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J. Weaving LS, et al. Among authors: gecz j. Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18. Am J Hum Genet. 2004. PMID: 15492925 Free PMC article.
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. Gilfillan GD, et al. Among authors: gecz j. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: gecz j. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: gecz j. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF. Corbett MA, et al. Among authors: gecz j. Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549339 Free PMC article.
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Among authors: gecz j. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003. Am J Hum Genet. 2012. PMID: 22243967 Free PMC article.
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. Huang L, et al. Among authors: gecz j. Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000143 Free PMC article.
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Dibbens LM, et al. Among authors: gecz j. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542697
373 results