المؤلفون: Fuerte, EPA, Nguyen, J, Mehaffey, M, Sulovari, A, Wang, TY, Galey, M, Miller, DE, Eichler, EE, Mefford, HC, Khalil, BA, Afawi, ZA, Allen, AS, Amrom, D, Andermann, E, Bautista, JF, Bellows, ST, Berkovic, SF, Bluvstein, J, Boro, A, Burgess, R, Cascino, GD, Chung, SK, Consalvo, D, Cossette, P, Crompton, DE, Crumrine, P, Curtis, SW, Delanty, N, Devinsky, O, Dlugos, D, Ellis, CA, Epstein, MP, Fiol, M, Fountain, NB, Freyer, C, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Harris, RV, Haut, S, Heinzen, EL, Helmers, S, Henry, OJ, Joshi, S, Kirsch, HE, Kivity, S, Knowlton, RC, Kossoff, E, Kuzniecky, R, Loeb, R, Lowenstein, DH, Marson, AG, McCormack, M, McGuire, SM, McKenna, K, Motika, PV, Mullen, SA, Novotny, EJ, O'Brien, TJ, Oliver, KL, Ottman, R, Paolicchi, JM, Parent, JM, Park, KL, Paterson, SJ, Petrovski, S, Pickrell, WO, Poduri, A, Rees, MI, Sadleir, LG, Scheffer, IE, Shellhaas, RA, Sherr, EH, Shih, JJ, Shinnar, S, Singh, RK, Sirven, J, Smith, MC, Smith, PEM, Sperling, MR, Sullivan, J, Thio, LL, Thomas, RH, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, J, Widdess-Walsh, P, Winawer, MR

المصدر: Epilepsia. 65(3):792-804

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:155315414

المؤلفون: Perucca, P, Anderson, A, Jazayeri, D, Hitchcock, A, Graham, J, Todaro, M, Tomson, T, Battino, D, Perucca, E, Ferri, MM, Rochtus, A, Lagae, L, Canevini, MP, Zambrelli, E, Campbell, E, Koeleman, BPC, Scheffer, IE, Berkovic, SF, Kwan, P, Sisodiya, SM, Goldstein, DB, Petrovski, S, Craig, J, Vajda, FJE, O'Brien, TJ

المصدر: Annals of neurology. 87(6):897-906

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143386717

المؤلفون: Yeom, D, Tan, YT, Haslam, N, Mosing, MA, Yap, VMZ, Fraser, T, Hildebrand, MS, Berkovic, SF, McPherson, GE, Peretz, I, Wilson, SJ

المصدر: iScience. 25(6):104360

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150006578

المؤلفون: Heron, SE, Grinton, BE, Kivity, S, Afawi, Z, Zuberi, SM, Hughes, JN, Pridmore, C, Hodgson, BL, Iona, X, Sadleir, LG, Pelekanos, J, Herlenius, E, Goldberg-Stern, H, Bassan, H, Haan, E, Korczyn, AD, Gardner, AE, Corbett, MA, Gecz, J, Thomas, PQ, Mulley, JC, Berkovic, SF, Scheffer, IE, Dibbens, LM

المصدر: American journal of human genetics. 90(1):152-160

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123927627

المؤلفون: Sherr, Elliott, Lowenstein, Daniel, Kirsch, Heidi, Alldredge, Brian, Allen, AS, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Glauser, T, Goldstein, DB, Han, Y

URL الوصول: https://escholarship.org/uc/item/2qw3x26x

المؤلفون: Herlenius, E, Heron, SE, Grinton, BE, Keay, D, Scheffer, IE, Mulley, JC, Berkovic, SF

المصدر: Epilepsia. 48(6):1138-1142

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:115530538

المؤلفون: Carvill, Gl, Mcmahon, Jm, Schneider, Andrea, Zemel, M, Myers, Ct, Saykally, J, Nguyen, J, Robbiano, A, Zara, F, Specchio, N, Mecarelli, O, Smith, Rl, Leventer, Rj, Møller, Rs, Nikanorova, M, Dimova, P, Jordanova, A, Petrou, S, Helbig, I, Striano, P, Weckhuysen, S, Berkovic, Sf, Scheffer, Ie, Mefford, Hc, von Spiczak, S, Muhle, H, Caglayan, H, Sterbova, K, Craiu, D, Hoffman, D, Lehesjoki, Ae, Selmer, K, Depienne, C, Lemke, J, Marini, Carla, Guerrini, Renzo, Neubauer, B, Talvik, T, Suls, A, Leguern, E.

مصطلحات موضوعية: GABA, Transporter SLC6A1, Epilepsy, Myoclonic-Atonic Seizures

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______310::aa2a6da9b5b46fb4e0a53520f7c42c9f
http://hdl.handle.net/2158/1013705

المؤلفون: 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, COPPOLA, ANTONIETTA, DEL GIUDICE, ENNIO

المساهمون: 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, W, Elger, Ce, Muhle, H, Stephani, U, Møller, R, 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, DEL GIUDICE, Ennio, Coppola, Antonietta

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::15117f4c4d3cc1fe0762bf7bffa234ee
http://hdl.handle.net/11588/465935

المؤلفون: Dibbens, Lm, Mullen, S, Helbig, I, Mefford, Hc, Bayly, Ma, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, Sander, T, Eichler, Ee, Scheffer, Ie, Mulley, Jc, Berkovic, Sf, De Jonghe, P, Suls, A, Hjalgrim, H, Madsen, Jm, Møller, Rs, Lehesjoki, Ae, Siren, A, Gaus, V, Janz, D, Schmitz, B, Elger, Ce, Hallmann, K, Kleefuß-Lie, Aa, Kunz, Ws, Raabe, A, Muhle, H, Ostertag, P, von Spiczak, S, Stephani, U, Lerche, H, Weber, Yg, Striano, P, Zara, F, Marini, C, Brilstra, Eh, Kastelijn-Nolst, Trenité, Koeleman, D, Bpc, de Kovel, Cgf, Lindhout, D, Swinkels, Mem, Yalcin, O, Baykan, B, Turkdogan, D, Dizdarer, G, Ozkara, C, Lee, Y, Müller-Quernheim, J, Fölster-Holst, R, Hofmann, S, Nebel, A., Schreiber, S, Schürmann, M, Rodriguez, E, Weidinger, S, Baurecht, H, Lie, Ba, Boberg, Km, Karlsen, Th.

المساهمون: De Jonghe, Peter, Suls, Arvid, Dibbens, Leanne M, Mullen, Saul, Helbig, Ingo, Mefford, Heather C, Bayly, Marta A, Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E, Scheffer, Ingrid E, Mulley, John C, Berkovic, Samuel F

المصدر: Human molecular genetics
Dibbens, L M, Mullen, S, Helbig, I, Mefford, H C, Bayly, M A, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, EPICURE Consortium, Sander, T, Eichler, E E, Scheffer, I E, Mulley, J C, Berkovic, S F & Møller, R S 2009, ' Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy : precedent for disorders with complex inheritance ', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-31 . https://doi.org/10.1093/hmg/ddp311

مصطلحات موضوعية: Male, Proband, Clinical Sciences, idiopathic generalized epilepsy, European Continental Ancestry Group, Single-nucleotide polymorphism, Pedigree chart, family studies, Biology, White People, Cohort Studies, Idiopathic generalized epilepsy, Epilepsy, single nucleotide polymorphism, genetic inheritance, Genetics, medicine, inheritance, Humans, SNP, Genetic Predisposition to Disease, Molecular Biology, Genetics (clinical), seizures, Chromosomes, Human, Pair 15, Articles, General Medicine, 5q13.3 deletions, medicine.disease, Penetrance, Pedigree, Female, Human medicine, microdeletion, Chromosome Deletion, Comparative genomic hybridization

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb5ead900b636337d02d9ce1deb538d
https://hdl.handle.net/10067/818860151162165141

المؤلفون: Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE.

المصدر: Annals of neurology 55 (2004): 550–557.
info:cnr-pdr/source/autori:Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE./titolo:Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy./doi:/rivista:Annals of neurology/anno:2004/pagina_da:550/pagina_a:557/intervallo_pagine:550–557/volume:55

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::0135c4fab9b46ebb74ed61a9580672b2
https://publications.cnr.it/doc/50220