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Results: 1 to 20 of 301

1.

Genotype phenotype associations across the voltage-gated sodium channel family.

Brunklaus A, Ellis R, Reavey E, Semsarian C, Zuberi SM.

J Med Genet. 2014 Aug 27. pii: jmedgenet-2014-102608. doi: 10.1136/jmedgenet-2014-102608. [Epub ahead of print] Review.

PMID:
25163687
[PubMed - as supplied by publisher]
2.

Clinical and genetic features of acute encephalopathy in children taking theophylline.

Saitoh M, Shinohara M, Ishii A, Ihara Y, Hirose S, Shiomi M, Kawawaki H, Kubota M, Yamagata T, Miyamoto A, Yamanaka G, Amemiya K, Kikuchi K, Kamei A, Akasaka M, Anzai Y, Mizuguchi M.

Brain Dev. 2014 Aug 22. pii: S0387-7604(14)00187-9. doi: 10.1016/j.braindev.2014.07.010. [Epub ahead of print]

PMID:
25156649
[PubMed - as supplied by publisher]
3.

Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy.

Ma CL, Wu XY, Zheng J, Wu ZY, Hong Z, Zhong MK.

Pharmacogenomics. 2014 Jul;15(10):1323-36. doi: 10.2217/pgs.14.89.

PMID:
25155934
[PubMed - in process]
4.

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
[PubMed - in process]
5.

[Strategy of advanced research in the field of acute encephalopathy in childhood].

Yamanouchi H, Sugie H.

No To Hattatsu. 2014 May;46(3):213-6. Review. Japanese. No abstract available.

PMID:
24902342
[PubMed - indexed for MEDLINE]
6.

[Molecular genetics of intractable epilepsies].

Kato M.

No To Hattatsu. 2014 May;46(3):191-4. Review. Japanese. No abstract available.

PMID:
24902337
[PubMed - indexed for MEDLINE]
7.

Antiepileptic activity of preferential inhibitors of persistent sodium current.

Anderson LL, Thompson CH, Hawkins NA, Nath RD, Petersohn AA, Rajamani S, Bush WS, Frankel WN, Vanoye CG, Kearney JA, George AL Jr.

Epilepsia. 2014 Aug;55(8):1274-83. doi: 10.1111/epi.12657. Epub 2014 May 23.

PMID:
24862204
[PubMed - in process]
8.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T.

Eur J Paediatr Neurol. 2014 Sep;18(5):567-71. doi: 10.1016/j.ejpn.2014.04.008. Epub 2014 Apr 18.

PMID:
24814476
[PubMed - in process]
9.

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 Jun;71(6):647-56. doi: 10.1001/jamapsychiatry.2014.157. Erratum in: JAMA Psychiatry. 2014 Jul;71(7):840.

PMID:
24718902
[PubMed - indexed for MEDLINE]
10.

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 Aug;45(4):261-4. doi: 10.1055/s-0034-1372302. Epub 2014 Apr 7.

PMID:
24710820
[PubMed - in process]
11.

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

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

Neurobiol Dis. 2014 Aug;68:16-25. doi: 10.1016/j.nbd.2014.03.014. Epub 2014 Apr 2.

PMID:
24704313
[PubMed - in process]
12.

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]
13.

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 Jul;67:180-90. doi: 10.1016/j.nbd.2014.03.007. Epub 2014 Mar 19.

PMID:
24657915
[PubMed - in process]
14.

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 - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
24618187
[PubMed - in process]
16.

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
[PubMed - indexed for MEDLINE]
17.

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; 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 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.

PMID:
24463883
[PubMed - in process]
Free PMC Article
18.

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
19.

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]
20.

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 - indexed for MEDLINE]

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