Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 1 to 20 of 266

    1.

    Idiopathic focal epilepsies.

    Vigevano F, Specchio N, Fejerman N.

    Handb Clin Neurol. 2013;111:591-604. doi: 10.1016/B978-0-444-52891-9.00061-0.

    PMID:
    23622206
    [PubMed - in process]
    2.

    Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.

    Heron SE, Ong YS, Yendle SC, McMahon JM, Berkovic SF, Scheffer IE, Dibbens LM.

    Epilepsia. 2013 May;54(5):e86-9. doi: 10.1111/epi.12167. Epub 2013 Apr 8.

    PMID:
    23566103
    [PubMed - in process]
    3.

    Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

    Touma M, Joshi M, Connolly MC, Ellen Grant P, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB.

    Epilepsia. 2013 May;54(5):e81-5. doi: 10.1111/epi.12137. Epub 2013 Mar 28.

    PMID:
    23550958
    [PubMed - in process]
    4.

    2-aminothiazoles with improved pharmacotherapeutic properties for treatment of prion disease.

    Li Z, Silber BM, Rao S, Gever JR, Bryant C, Gallardo-Godoy A, Dolghih E, Widjaja K, Elepano M, Jacobson MP, Prusiner SB, Renslo AR.

    ChemMedChem. 2013 May;8(5):847-57. doi: 10.1002/cmdc.201300007. Epub 2013 Mar 18.

    PMID:
    23509039
    [PubMed - in process]
    5.

    Molecular aspects of Dravet syndrome patients in Taiwan.

    Lin WD, Chang KP, Wang CH, Chen SJ, Fan PC, Weng WC, Lin WC, Tsai Y, Tsai CH, Chou IC, Tsai FJ.

    Clin Chim Acta. 2013 Jun 5;421:34-40. doi: 10.1016/j.cca.2013.02.015. Epub 2013 Feb 26.

    PMID:
    23485646
    [PubMed - in process]
    6.

    Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

    Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C.

    Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

    PMID:
    23360469
    [PubMed - indexed for MEDLINE]
    7.

    Intracerebral Infusion of Antisense Oligonucleotides Into Prion-infected Mice.

    Nazor Friberg K, Hung G, Wancewicz E, Giles K, Black C, Freier S, Bennett F, Dearmond SJ, Freyman Y, Lessard P, Ghaemmaghami S, Prusiner SB.

    Mol Ther Nucleic Acids. 2012 Feb 7;1:e9. doi: 10.1038/mtna.2011.6.

    PMID:
    23344724
    [PubMed]
    Free PMC Article
    8.

    Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

    Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S; Epilepsy Genetic Study Group Japan.

    Epilepsy Res. 2012 Dec;102(3):195-200. doi: 10.1016/j.eplepsyres.2012.06.006. Epub 2012 Jul 20.

    PMID:
    23195492
    [PubMed - indexed for MEDLINE]
    9.

    A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

    Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K.

    Epilepsia. 2012 Dec;53(12):e200-3. doi: 10.1111/epi.12040. Epub 2012 Nov 13.

    PMID:
    23148524
    [PubMed - indexed for MEDLINE]
    10.

    Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

    Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.

    Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Review.

    PMID:
    23020937
    [PubMed - indexed for MEDLINE]
    11.

    Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

    Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.

    Epilepsia. 2012 Dec;53(12):2128-34. doi: 10.1111/j.1528-1167.2012.03676.x. Epub 2012 Sep 27. Review.

    PMID:
    23016767
    [PubMed - indexed for MEDLINE]
    12.

    Cytochalasin D enhances the accumulation of a protease-resistant form of prion protein in ScN2a cells: involvement of PI3 kinase/Akt signalling pathway.

    Takenouchi T, Iwamaru Y, Imamura M, Fukuhara S, Sugama S, Sato M, Mochizuki N, Hashimoto M, Yokoyama T, Mohri S, Kitani H.

    Cell Biol Int. 2012;36(12):1223-31. doi: 10.1042/CBI20120329.

    PMID:
    22985412
    [PubMed - indexed for MEDLINE]
    13.

    Sodium channels and the neurobiology of epilepsy.

    Oliva M, Berkovic SF, Petrou S.

    Epilepsia. 2012 Nov;53(11):1849-59. doi: 10.1111/j.1528-1167.2012.03631.x. Epub 2012 Aug 20. Review. Erratum in: Epilepsia. 2013 Mar;54(3):570.

    PMID:
    22905747
    [PubMed - indexed for MEDLINE]
    14.

    Synthesis of benzamide derivatives and their evaluation as antiprion agents.

    Fiorino F, Eiden M, Giese A, Severino B, Esposito A, Groschup MH, Perissutti E, Magli E, Incisivo GM, Ciano A, Frecentese F, Kretzschmar HA, Wagner J, Santagada V, Caliendo G.

    Bioorg Med Chem. 2012 Aug 15;20(16):5001-11. doi: 10.1016/j.bmc.2012.06.026. Epub 2012 Jun 20.

    PMID:
    22795751
    [PubMed - indexed for MEDLINE]
    15.

    Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.

    Lossin C, Shi X, Rogawski MA, Hirose S.

    Neurobiol Dis. 2012 Sep;47(3):378-84. doi: 10.1016/j.nbd.2012.05.017. Epub 2012 Jun 4.

    PMID:
    22677033
    [PubMed - indexed for MEDLINE]
    16.

    Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

    Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S.

    Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21.

    PMID:
    22612257
    [PubMed - indexed for MEDLINE]
    17.

    Discovery of epilepsy susceptibility genes: implications for therapy development and pharmacogenomics.

    Ferraro TN.

    Pharmacogenomics. 2012 May;13(7):731-4. doi: 10.2217/pgs.12.31. No abstract available.

    PMID:
    22594501
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Acute encephalopathy with a novel point mutation in the SCN2A gene.

    Kobayashi K, Ohzono H, Shinohara M, Saitoh M, Ohmori I, Ohtsuka Y, Mizuguchi M.

    Epilepsy Res. 2012 Nov;102(1-2):109-12. doi: 10.1016/j.eplepsyres.2012.04.016. Epub 2012 May 14.

    PMID:
    22591750
    [PubMed - indexed for MEDLINE]
    19.

    Clinical application of exome sequencing in undiagnosed genetic conditions.

    Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB.

    J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11.

    PMID:
    22581936
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Interaction of alfaxalone with the neuronal and the skeletal muscle sodium channel.

    Foadi N, Pilawski I, Buchholz V, de la Roche J, Wegner F, Leffler A, Ahrens J, Kästner S.

    Pharmacology. 2012;89(5-6):295-302. doi: 10.1159/000337737.

    PMID:
    22538831
    [PubMed - indexed for MEDLINE]

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Loading ...
      Write to the Help Desk