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Journal Abstract Search


248 related items for PubMed ID: 22949513

  • 1. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
    EPICURE ConsortiumInstitute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany., EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.
    Hum Mol Genet; 2012 Dec 15; 21(24):5359-72. PubMed ID: 22949513
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  • 3. Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.
    Delgado-Escueta AV, Medina MT, Serratosa JM, Castroviejo IP, Gee MN, Weissbecker K, Westling BW, Fong CY, Alonso ME, Cordova S, Shah P, Khan S, Sainz J, Rubio-Donnadieu F, Sparkes RS.
    Adv Neurol; 1999 Dec 15; 79():351-74. PubMed ID: 10514826
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  • 4. Genetic Causes of Generalized Epilepsies.
    Helbig I.
    Semin Neurol; 2015 Jun 15; 35(3):288-92. PubMed ID: 26060908
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  • 5. A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.
    Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK.
    Epilepsy Res; 2005 Jun 15; 66(1-3):91-8. PubMed ID: 16112844
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  • 6. Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.
    Chan CK, Low JS, Lim KS, Low SK, Tan CT, Ng CC.
    Neurol Sci; 2020 Mar 15; 41(3):591-598. PubMed ID: 31720899
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  • 7. Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.
    Lenzen KP, Heils A, Lorenz S, Hempelmann A, Höfels S, Lohoff FW, Schmitz B, Sander T.
    Epilepsy Res; 2005 Feb 15; 63(2-3):113-8. PubMed ID: 15725393
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  • 11. Unraveling the genetics of common epilepsies: approaches, platforms, and caveats.
    Petrovski S, Kwan P.
    Epilepsy Behav; 2013 Mar 15; 26(3):229-33. PubMed ID: 23103323
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  • 14. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
    Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF.
    Epilepsia; 2004 May 15; 45(5):467-78. PubMed ID: 15101828
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  • 17. Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.
    Torabian P, Dehestani M, Morshedi Rad D, Peiravi S, Aghaie-Hakkak M, Ashraf H.
    Arch Iran Med; 2019 Sep 01; 22(9):516-526. PubMed ID: 31679374
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  • 18. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
    Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW.
    Ann Neurol; 2007 Dec 01; 62(6):560-8. PubMed ID: 17696120
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  • 20. Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis.
    Muhle H, von Spiczak S, Gaus V, Kara S, Helbig I, Hampe J, Franke A, Weber Y, Lerche H, Kleefuss-Lie AA, Elger CE, Schreiber S, Stephani U, Sander T.
    Epilepsy Res; 2010 May 01; 89(2-3):319-26. PubMed ID: 20338729
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