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Page 1
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium; 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. EPICURE Consortium, et al. Among authors: avanzini g. Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949513
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium; Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: avanzini g. Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13. Epilepsia. 2012. PMID: 22242659 Free article.
A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study.
Menzler K, Hermsen A, Balkenhol K, Duddek C, Bugiel H, Bauer S, Schorge S, Reif PS, Klein KM, Haag A, Oertel WH, Hamer HM, Knake S, Trucks H, Sander T, Rosenow F; EPICURE-Consortium. Menzler K, et al. Epilepsia. 2014 Feb;55(2):362-9. doi: 10.1111/epi.12515. Epub 2014 Jan 13. Epilepsia. 2014. PMID: 24417206 Free article. Clinical Trial.
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: avanzini g. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
Juvenile myoclonic epilepsy: A system disorder of the brain.
Wolf P, Yacubian EM, Avanzini G, Sander T, Schmitz B, Wandschneider B, Koepp M. Wolf P, et al. Among authors: avanzini g. Epilepsy Res. 2015 Aug;114:2-12. doi: 10.1016/j.eplepsyres.2015.04.008. Epub 2015 Apr 27. Epilepsy Res. 2015. PMID: 26088880 Review.
Introduction.
Avanzini G, Capovilla G. Avanzini G, et al. Epilepsia. 2013 Nov;54 Suppl 8:1. doi: 10.1111/epi.12415. Epilepsia. 2013. PMID: 24571109 Free article. No abstract available.
Progressive Myoclonus Epilepsy: The Gene-Empowered Era.
Minassian BA, Striano P, Avanzini G. Minassian BA, et al. Among authors: avanzini g. Epileptic Disord. 2016 Sep 1;18(S2):1-2. doi: 10.1684/epd.2016.0864. Epileptic Disord. 2016. PMID: 27694067 Free PMC article. No abstract available.
Progressive myoclonic epilepsies: definitive and still undetermined causes.
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, Tinuper P, La Neve A, Ferlazzo E, Gobbi G, Giallonardo AT, Capovilla G, Visani E, Panzica F, Avanzini G, Tassinari CA, Bianchi A, Zara F; Collaborative LICE study group on PMEs. Franceschetti S, et al. Among authors: avanzini g. Neurology. 2014 Feb 4;82(5):405-11. doi: 10.1212/WNL.0000000000000077. Epub 2014 Jan 2. Neurology. 2014. PMID: 24384641 Free PMC article.
The system epilepsies: a pathophysiological hypothesis.
Avanzini G, Manganotti P, Meletti S, Moshé SL, Panzica F, Wolf P, Capovilla G. Avanzini G, et al. Epilepsia. 2012 May;53(5):771-8. doi: 10.1111/j.1528-1167.2012.03462.x. Epilepsia. 2012. PMID: 22533642 Free article. Review.
244 results