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Results: 1 to 20 of 293

1.

Differential Effects of Common Variants in SCN2A on General Cognitive Ability, Brain Physiology, and messenger RNA Expression in Schizophrenia Cases and Control Individuals.

Dickinson D, Straub RE, Trampush JW, Gao Y, Feng N, Xie B, Shin JH, Lim HK, Ursini G, Bigos KL, Kolachana B, Hashimoto R, Takeda M, Baum GL, Rujescu D, Callicott JH, Hyde TM, Berman KF, Kleinman JE, Weinberger DR.

JAMA Psychiatry. 2014 Apr 9. doi: 10.1001/jamapsychiatry.2014.157. [Epub ahead of print]

PMID:
24718902
[PubMed - as supplied by publisher]
2.

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene.

Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B.

Neuropediatrics. 2014 Apr 7. [Epub ahead of print]

PMID:
24710820
[PubMed - as supplied by publisher]
3.

Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

Makinson CD, Tanaka BS, Lamar T, Goldin AL, Escayg A.

Neurobiol Dis. 2014 Apr 2. pii: S0969-9961(14)00075-8. doi: 10.1016/j.nbd.2014.03.014. [Epub ahead of print]

PMID:
24704313
[PubMed - as supplied by publisher]
4.

Confirming an expanded spectrum of SCN2A mutations: a case series.

Matalon D, Goldberg E, Medne L, Marsh ED.

Epileptic Disord. 2014 Mar;16(1):13-8. doi: 10.1684/epd.2014.0641.

PMID:
24659627
[PubMed - in process]
5.

Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy.

Oliva MK, McGarr TC, Beyer BJ, Gazina E, Kaplan DI, Cordeiro L, Thomas E, Dib-Hajj SD, Waxman SG, Frankel WN, Petrou S.

Neurobiol Dis. 2014 Mar 19. pii: S0969-9961(14)00068-0. doi: 10.1016/j.nbd.2014.03.007. [Epub ahead of print]

PMID:
24657915
[PubMed - as supplied by publisher]
6.

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.

PMID:
24650168
[PubMed - in process]
Free Article
7.

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 Mar 11. [Epub ahead of print]

PMID:
24618187
[PubMed - as supplied by publisher]
8.

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 Mar 1. doi: 10.1111/epi.12554. [Epub ahead of print]

PMID:
24579881
[PubMed - as supplied by publisher]
9.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; The WGS500 Consortium, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC.

Hum Mol Genet. 2014 Feb 11. [Epub ahead of print]

PMID:
24463883
[PubMed - as supplied by publisher]
Free Article
10.

Anti-prion activity of a panel of aromatic chemical compounds: in vitro and in silico approaches.

Ferreira NC, Marques IA, Conceição WA, Macedo B, Machado CS, Mascarello A, Chiaradia-Delatorre LD, Yunes RA, Nunes RJ, Hughson AG, Raymond LD, Pascutti PG, Caughey B, Cordeiro Y.

PLoS One. 2014 Jan 6;9(1):e84531. doi: 10.1371/journal.pone.0084531. eCollection 2014.

PMID:
24400098
[PubMed - in process]
Free PMC Article
11.

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.

PMID:
24387789
[PubMed - in process]
12.

Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.

Baum L, Haerian BS, Ng HK, Wong VC, Ng PW, Lui CH, Sin NC, Zhang C, Tomlinson B, Wong GW, Tan HJ, Raymond AA, Mohamed Z, Kwan P.

Hum Genet. 2014 May;133(5):651-9. doi: 10.1007/s00439-013-1405-1. Epub 2013 Dec 13.

PMID:
24337656
[PubMed - in process]
13.

Regulation of Cu-Zn superoxide dismutase on SCN2A in SH-SY5Y cells as a potential therapy for temporal lobe epilepsy.

Xiang J, Jiang Y.

Mol Med Rep. 2014 Jan;9(1):16-22. doi: 10.3892/mmr.2013.1790. Epub 2013 Nov 11.

PMID:
24220630
[PubMed - in process]
Free PMC Article
14.

Antiprion compounds that reduce PrP(Sc) levels in dividing and stationary-phase cells.

Silber BM, Gever JR, Li Z, Gallardo-Godoy A, Renslo AR, Widjaja K, Irwin JJ, Rao S, Jacobson MP, Ghaemmaghami S, Prusiner SB.

Bioorg Med Chem. 2013 Dec 15;21(24):7999-8012. doi: 10.1016/j.bmc.2013.09.022. Epub 2013 Sep 18.

PMID:
24183589
[PubMed - in process]
15.

Novel SCN3A variants associated with focal epilepsy in children.

Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA.

Neurobiol Dis. 2014 Feb;62:313-22. doi: 10.1016/j.nbd.2013.10.015. Epub 2013 Oct 21.

PMID:
24157691
[PubMed - in process]
16.

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
[PubMed - indexed for MEDLINE]
17.

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.

Dhamija R, Wirrell E, Falcao G, Kirmani S, Wong-Kisiel LC.

Pediatr Neurol. 2013 Dec;49(6):486-8. doi: 10.1016/j.pediatrneurol.2013.07.004. Epub 2013 Aug 26.

PMID:
23988467
[PubMed - in process]
18.

Optimization of Arylamides as Novel, Potent and Brain-penetrant Antiprion Lead Compounds.

Li Z, Rao S, Gever JR, Widjaja K, Prusiner SB, Silber BM.

ACS Med Chem Lett. 2013 Jul 11;4(7):647-650.

PMID:
23977416
[PubMed]
19.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H.

Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9.

PMID:
23935176
[PubMed - indexed for MEDLINE]
20.

SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.

Haerian BS, Baum L, Kwan P, Tan HJ, Raymond AA, Mohamed Z.

Pharmacogenomics. 2013 Jul;14(10):1153-66. doi: 10.2217/pgs.13.104.

PMID:
23859570
[PubMed - indexed for MEDLINE]

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