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Results: 17

1.

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

Li J, Cai T, Jiang Y, Chen H, He X, Chen C, Li X, Shao Q, Ran X, Li Z, Xia K, Liu C, Sun ZS, Wu J.

Mol Psychiatry. 2015 Apr 7. doi: 10.1038/mp.2015.40. [Epub ahead of print]

PMID:
25849321
2.

'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.

Gazina EV, Leaw BT, Richards KL, Wimmer VC, Kim TH, Aumann TD, Featherby TJ, Churilov L, Hammond VE, Reid CA, Petrou S.

Hum Mol Genet. 2015 Mar 1;24(5):1457-68. doi: 10.1093/hmg/ddu562. Epub 2014 Nov 6.

PMID:
25378553
3.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N.

J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25.

PMID:
25062845
4.

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.

Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD.

BMC Med Genet. 2014 Mar 20;15:35. doi: 10.1186/1471-2350-15-35.

5.

Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.

Kim YS, State MW.

Int J Epidemiol. 2014 Apr;43(2):465-75. doi: 10.1093/ije/dyu037. Epub 2014 Mar 11. Review.

6.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

PMID:
24579881
7.

A de novo convergence of autism genetics and molecular neuroscience.

Krumm N, O'Roak BJ, Shendure J, Eichler EE.

Trends Neurosci. 2014 Feb;37(2):95-105. doi: 10.1016/j.tins.2013.11.005. Epub 2013 Dec 30. Review.

8.

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E.

Gene. 2013 Dec 15;532(2):294-6. doi: 10.1016/j.gene.2013.09.073. Epub 2013 Sep 28.

PMID:
24080482
9.

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW.

Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11.

10.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW.

Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.

11.

Structural and energetic determinants of apo calmodulin binding to the IQ motif of the Na(V)1.2 voltage-dependent sodium channel.

Feldkamp MD, Yu L, Shea MA.

Structure. 2011 May 11;19(5):733-47. doi: 10.1016/j.str.2011.02.009.

12.

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

Chen CP, Lin SP, Chern SR, Chen YJ, Tsai FJ, Wu PC, Wang W.

Eur J Med Genet. 2010 Jul-Aug;53(4):217-20. doi: 10.1016/j.ejmg.2010.03.006. Epub 2010 Mar 24.

PMID:
20346423
13.

[Autism, epilepsy and genetics].

Muñoz-Yunta JA, Palau-Baduell M, Salvadó-Salvadó B, Valls-Santasusana A, Rosendo-Moreno N, Clofent-Torrentó M, Manchado F.

Rev Neurol. 2008;46 Suppl 1:S71-7. Review. Spanish.

14.

A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD).

Adegbola A, Gao H, Sommer S, Browning M.

Am J Med Genet A. 2008 Feb 15;146A(4):505-11. doi: 10.1002/ajmg.a.32142.

PMID:
18203167
15.

Autism in several members of a family with generalized epilepsy with febrile seizures plus.

Dixon-Salazar TJ, Keeler LC, Trauner DA, Gleeson JG.

J Child Neurol. 2004 Aug;19(8):597-603.

PMID:
15605469
16.

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.

Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K.

J Neurosci. 2004 Mar 17;24(11):2690-8.

17.

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH.

Mol Psychiatry. 2003 Feb;8(2):186-94.

PMID:
12610651
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