المؤلفون: Crow, YJ, Chase, DS, Schmidt, JL, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, MS, Abdel-Salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, EM, Bahi-Buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, de Villemeur, TB, Blair, EM, Bloom, M, Burlina, AB, Carpanelli, ML, Carvalho, DR, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Corcoles, CS, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D'Arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, MJ, Lin, JPSM, Linnankivi, T, Mackay, MT, Marom, DR, Lourenco, CM, McKee, SA, Moroni, I, Morton, JEV, Moutard, ML, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Perez-Duenas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stodberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Naude, JT, Teik, KW, Thomas, MM, Till, M, Tonduti, D, Valente, EM, Van Coster, RN, van der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, GI

المصدر: American journal of medical genetics. Part A. 167(167A):296-312

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130658997

المؤلفون: Stevelink R, Campbell C, Chen S, Abou-Khalil B, Adesoji OM, Afawi Z, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Auce P, Avbersek A, Bahlo M, Baker MD, Balagura G, Balestrini S, Barba C, Barboza K, Bartolomei F, Bast T, Baum L, Baumgartner T, Baykan B, Bebek N, Becker AJ, Becker F, Bennett CA, Berghuis B, Berkovic SF, Beydoun A, Bianchini C, Bisulli F, Blatt I, Bobbili DR, Borggraefe I, Bosselmann C, Braatz V, Bradfield JP, Brockmann K, Brody LC, Buono RJ, Busch RM, Caglayan H, Campbell E, Canafoglia L, Canavati C, Cascino GD, Castellotti B, Catarino CB, Cavalleri GL, Cerrato F, Chassoux F, Cherny SS, Cheung C-L, Chinthapalli K, Chou I-J, Chung S-K, Churchhouse C, Clark PO, Cole AJ, Compston A, Coppola A, Cosico M, Cossette P, Craig JJ, Cusick C, Daly MJ, Davis LK, de Haan G-J, Delanty N, Depondt C, Derambure P, Devinsky O, Di Vito L, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Elger CE, Ellis CA, Eriksson JG, Faucon A, Feng Y-CA, Ferguson L, Ferraro TN, Ferri L, Feucht M, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, Franke A, French JA, Freri E, Gagliardi M, Gambardella A, Geller EB, Giangregorio T, Gjerstad L, Glauser T, Goldberg E, Goldman A, Granata T, Greenberg DA, Guerrini R, Gupta N, Haas KF, Hakonarson H, Hallmann K, Hassanin E, Hegde M, Heinzen EL, Helbig I, Hengsbach C, Heyne HO, Hirose S, Hirsch E, Hjalgrim H, Howrigan DP, Hucks D, Hung P-C, Iacomino M, Imbach LL, Inoue Y, Ishii A, Jamnadas-Khoda J, Jehi L, Johnson MR, Kalviainen R, Kamatani Y, Kanaan M, Kanai M, Kantanen A-M, Kara B, Kariuki SM, Kasperaviciute D, Kasteleijn-Nolst Trenite D, Kato M, Kegele J, Kesim Y, Khoueiry-Zgheib N, King C, Kirsch HE, Klein KM, Kluger G, Knake S, Knowlton RC, Koeleman BPC, Korczyn AD, Koupparis A, Kousiappa I, Krause R, Krenn M, Krestel H, Krey I, Kunz WS, Kurki MI, Kurlemann G, Kuzniecky R, Kwan P, Labate A, Lacey A, Lal D, Landoulsi Z, Lau Y-L, Lauxmann S, Leech SL, Lehesjoki A-E, Lemke JR, Lerche H, Lesca G, Leu C, Lewin N, Lewis-Smith D, Li GH-Y, Li QS, Licchetta L, Lin K-L, Lindhout D, Linnankivi T, Lopes-Cendes I, Lowenstein DH, Lui CHT, Madia F, Magnusson S, Marson AG, May P, McGraw CM, Mei D, Mills JL, Minardi R, Mirza N, Moller RS, Molloy AM, Montomoli M, Mostacci B, Muccioli L, Muhle H, Muller-Schluter K, Najm IM, Nasreddine W, Neale BM, Neubauer B, Newton CRJC, Nothen MM, Nothnagel M, Nurnberg P, O'Brien TJ, Okada Y, Olafsson E, Oliver KL, Ozkara C, Palotie A, Pangilinan F, Papacostas SS, Parrini E, Pato CN, Pato MT, Pendziwiat M, Petrovski S, Pickrell WO, Pinsky R, Pippucci T, Poduri A, Pondrelli F, Powell RHW, Privitera M, Rademacher A, Radtke R, Ragona F, Rau S, Rees MI, Regan BM, Reif PS, Rhelms S, Riva A, Rosenow F, Ryvlin P, Saarela A, Sadleir LG, Sander JW, Sander T, Scala M, Scattergood T, Schachter SC, Schankin CJ, Scheffer IE, Schmitz B, Schoch S, Schubert-Bast S, Schulze-Bonhage A, Scudieri P, Sham P, Sheidley BR, Shih JJ, Sills GJ, Sisodiya SM, Smith MC, Smith PE, Sonsma ACM, Speed D, Sperling MR, Stefansson H, Stefansson K, Steinhoff BJ, Stephani U, Stewart WC, Stipa C, Striano P, Stroink H, Strzelczyk A, Surges R, Suzuki T, Tan KM, Taneja RS, Tanteles GA, Tauboll E, Thio LL, Thomas GN, Thomas RH, Timonen O, Tinuper P, Todaro M, Topaloglu P, Tozzi R, Tsai M-H, Tumiene B, Turkdogan D, Unnsteinsdottir U, Utkus A, Vaidiswaran P, Valton L, van Baalen A, Vetro A, Vining EPG, Visscher F, von Brauchitsch S, von Wrede R, Wagner RG, Weber YG, Weckhuysen S, Weisenberg J, Weller M, Widdess-Walsh P, Wolff M, Wolking S, Wu D, Yamakawa K, Yang W, Yapici Z, Yucesan E, Zagaglia S, Zahnert F, Zara F, Zhou W, Zimprich F, Zsurka G, Zulfiqar Ali Q

المصدر: Nature Genetics, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293319; https://eprints.ncl.ac.uk/fulltext.aspx?url=293319/C38CDCD2-0D5D-4B3D-B030-88EDA47AB028.pdf&pub_id=293319

الاتاحة: https://eprints.ncl.ac.uk/293319

المؤلفون: Montanucci L., Lewis-Smith D., Collins R. L., Niestroj L. -M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R. H., Talkowski M., Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Goldstein D. B., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Berkovic S. F., Lerche H., Lowenstein D. H., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leech S. L., Leu C., O'Brien T. J., Todaro M., Stamberger H., Depondti C., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E., Kunz W. S., Zsurka G., Surges R., Baumgartner T. H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R. H. W., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Lino N., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry-Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Newton C. R. J. C., Kariuki S. M., Wagner R. G., Owusu-Agyei S., Cole A. J., McGraw C. M., Siena S. A., Davis L., Hucks D., Faucon A., Wu D., Abou-Khalil B. W., Haas K., Taneja R. S., Epi25 Collaborative

المساهمون: Montanucci L., Lewis-Smith D., Collins R.L., Niestroj L.-M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R.H., Talkowski M., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Goldstein D.B., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Berkovic S.F., Lerche H., Lowenstein D.H., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leech S.L., Leu C., O'Brien T.J., Todaro M., Stamberger H., Depondti C., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E., Kunz W.S., Zsurka G., Surges R., Baumgartner T.H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S.

مصطلحات موضوعية: copy number variant, seizure, genome wide

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37474567; info:eu-repo/semantics/altIdentifier/wos/WOS:001040020600007; volume:14; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/957673; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6

الاتاحة: https://hdl.handle.net/11585/957673
https://doi.org/10.1038/s41467-023-39539-6
https://www.nature.com/articles/s41467-023-39539-6

المؤلفون: Stevelink, R, Campbell, C, Chen, S, Abou-Khalil, B, Adesoji, OM, Afawi, Z, Amadori, E, Anderson, A, Anderson, J, Andrade, DM, Annesi, G, Auce, P, Avbersek, A, Bahlo, M, Baker, MD, Balagura, G, Balestrini, S, Barba, C, Barboza, K, Bartolomei, F, Bast, T, Baum, L, Baumgartner, T, Baykan, B, Bebek, N, Becker, AJ, Becker, F, Bennett, CA, Berghuis, B, Berkovic, SF, Beydoun, A, Bianchini, C, Bisulli, F, Blatt, I, Bobbili, DR, Borggraefe, I, Bosselmann, C, Braatz, V, Bradfield, JP, Brockmann, K, Brody, LC, Buono, RJ, Busch, RM, Caglayan, H, Campbell, E, Canafoglia, L, Canavati, C, Cascino, GD, Castellotti, B, Catarino, CB, Cavalleri, GL, Cerrato, F, Chassoux, F, Cherny, SS, Cheung, C-L, Chinthapalli, K, Chou, I-J, Chung, S-K, Churchhouse, C, Clark, PO, Cole, AJ, Compston, A, Coppola, A, Cosico, M, Cossette, P, Craig, JJ, Cusick, C, Daly, MJ, Davis, LK, de Haan, G-J, Delanty, N, Depondt, C, Derambure, P, Devinsky, O, Di Vito, L, Dlugos, DJ, Doccini, V, Doherty, CP, El-Naggar, H, Elger, CE, Ellis, CA, Eriksson, JG, Faucon, A, Feng, Y-CA, Ferguson, L, Ferraro, TN, Ferri, L, Feucht, M, Fitzgerald, M, Fonferko-Shadrach, B, Fortunato, F, Franceschetti, S, Franke, A, French, JA, Freri, E, Gagliardi, M, Gambardella, A, Geller, EB, Giangregorio, T, Gjerstad, L, Glauser, T, Goldberg, E, Goldman, A, Granata, T, Greenberg, DA, Guerrini, R, Gupta, N, Haas, KF, Hakonarson, H, Hallmann, K, Hassanin, E, Hegde, M, Heinzen, EL, Helbig, I, Hengsbach, C, Heyne, HO, Hirose, S, Hirsch, E, Hjalgrim, H, Howrigan, DP, Hucks, D, Hung, P-C, Iacomino, M, Imbach, LL, Inoue, Y, Ishii, A, Jamnadas-Khoda, J, Jehi, L, Johnson, MR, Kalviainen, R, Kamatani, Y, Kanaan, M, Kanai, M, Kantanen, A-M, Kara, B, Kariuki, SM, Kasperaviciute, D, Trenite, DK-N, Kato, M, Kegele, J, Kesim, Y, Khoueiry-Zgheib, N, King, C, Kirsch, HE, Klein, KM, Kluger, G, Knake, S, Knowlton, RC, Koeleman, BPC, Korczyn, AD, Koupparis, A, Kousiappa, I, Krause, R, Krenn, M, Krestel, H, Krey, I, Kunz, WS, Kurki, MI, Kurlemann, G, Kuzniecky, R, Kwan, P, Labate, A, Lacey, A, Lal, D, Landoulsi, Z, Lau, Y-L, Lauxmann, S, Leech, SL, Lehesjoki, A-E, Lemke, JR, Lerche, H, Lesca, G, Leu, C, Lewin, N, Lewis-Smith, D, Li, GH-Y, Li, QS, Licchetta, L, Lin, K-L, Lindhout, D, Linnankivi, T, Lopes-Cendes, I, Lowenstein, DH, Lui, CHT, Madia, F, Magnusson, S, Marson, AG, May, P, McGraw, CM, Mei, D, Mills, JL, Minardi, R, Mirza, N, Moller, RS, Molloy, AM, Montomoli, M, Mostacci, B, Muccioli, L, Muhle, H, Mueller-Schlueter, K, Najm, IM, Nasreddine, W, Neale, BM, Neubauer, B, Newton, CRJC, Noethen, MM, Nothnagel, M, Nuernberg, P, O'Brien, TJ, Okada, Y, Olafsson, E, Oliver, KL, Ozkara, C, Palotie, A, Pangilinan, F, Papacostas, SS, Parrini, E, Pato, CN, Pato, MT, Pendziwiat, M, Petrovski, S, Pickrell, WO, Pinsky, R, Pippucci, T, Poduri, A, Pondrelli, F, Powell, RHW, Privitera, M, Rademacher, A, Radtke, R, Ragona, F, Rau, S, Rees, MI, Regan, BM, Reif, PS, Rhelms, S, Riva, A, Rosenow, F, Ryvlin, P, Saarela, A, Sadleir, LG, Sander, JW, Sander, T, Scala, M, Scattergood, T, Schachter, SC, Schankin, CJ, Scheffer, IE, Schmitz, B, Schoch, S, Schubert-Bast, S, Schulze-Bonhage, A, Scudieri, P, Sham, P, Sheidley, BR, Shih, JJ, Sills, GJ, Sisodiya, SM, Smith, MC, Smith, PE, Sonsma, ACM, Speed, D, Sperling, MR, Stefansson, H, Stefansson, K, Steinhoff, BJ, Stephani, U, Stewart, WC, Stipa, C, Striano, P, Stroink, H, Strzelczyk, A, Surges, R, Suzuki, T, Tan, KM, Taneja, RS, Tanteles, GA, Tauboll, E, Thio, LL, Thomas, GN, Thomas, RH, Timonen, O, Tinuper, P, Todaro, M, Topaloglu, P, Tozzi, R, Tsai, M-H, Tumiene, B, Turkdogan, D, Unnsteinsdottir, U, Utkus, A, Vaidiswaran, P, Valton, L, van Baalen, A, Vetro, A, Vining, EPG, Visscher, F, von Brauchitsch, S, von Wrede, R, Wagner, RG, Weber, YG, Weckhuysen, S, Weisenberg, J, Weller, M, Widdess-Walsh, P, Wolff, M, Wolking, S, Wu, D, Yamakawa, K, Yang, W, Yapici, Z, Yucesan, E, Zagaglia, S, Zahnert, F, Zara, F, Zhou, W, Zimprich, F, Zsurka, G, Ali, QZ

Relation: NHMRC/1091593; pii: 10.1038/s41588-023-01485-w; Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O. M., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D. M., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M. D., Balagura, G., Balestrini, S., Barba, C., Barboza, K. ,. Ali, Q. Z. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. NATURE GENETICS, 55 (9), pp.1471-+. https://doi.org/10.1038/s41588-023-01485-w.; http://hdl.handle.net/11343/337633

الاتاحة: http://hdl.handle.net/11343/337633

المؤلفون: Järvelä, I. (Irma), Määttä, T. (Tuomo), Acharya, A. (Anushree), Leppälä, J. (Juha), Jhangiani, S. N. (Shalini N.), Arvio, M. (Maria), Siren, A. (Auli), Kankuri-Tammilehto, M. (Minna), Kokkonen, H. (Hannaleena), Palomäki, M. (Maarit), Varilo, T. (Teppo), Fang, M. (Mary), Hadley, T. D. (Trevor D), Jolly, A. (Angad), Linnankivi, T. (Tarja), Paetau, R. (Ritva), Saarela, A. (Anni), Kälviäinen, R. (Reetta), Olme, J. (Jan), Nouel-Saied, L. M. (Liz M.), Cornejo-Sanchez, D. M. (Diana M.), Llaci, L. (Lorida), Lupski, J. R. (James R.), Posey, J. E. (Jennifer E.), Leal, S. M. (Suzanne M.), Schrauwen, I. (Isabelle)

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2021090845545

المؤلفون: Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB

المصدر: American Journal of Human Genetics , 108 (6) pp. 965-982. (2021)

مصطلحات موضوعية: Epilepsy, epileptic encephalopathy, seizures, whole-exome sequencing, focal epilepsy, generalized epilepsy, intolerance, ClinVar, Epi25, Louvain

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf; https://discovery.ucl.ac.uk/id/eprint/10131811/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf
https://discovery.ucl.ac.uk/id/eprint/10131811/

المؤلفون: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Vincenzo Salpietro, Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.

المساهمون: Leu, C., Stevelink, R., Smith, A. W., Goleva, S. B., Kanai, M., Ferguson, L., Campbell, C., Kamatani, Y., Okada, Y., Sisodiya, S. M., Cavalleri, G. L., Koeleman, B. P. C., Lerche, H., Jehi, L., Davis, L. K., Najm, I. M., Palotie, A., Daly, M. J., Busch, R. M., Lal, D., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Churchhouse, C., Gupta, N., Neale, B. M., Berkovic, S. F., Goldstein, D. B., Lowenstein, D. H., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bellows, S. T., Bennett, C. A., Johns, E. M. C., Macdonald, A., Shilling, H., Burgess, R., Weckhuysen, D., Bahlo, M., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Sadoway, T. R., Mo, K., Krestel, H., Gallati, S., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Kunz, W. S., Zsurka, G., Elger, C. E., Bauer, J., Rademacher, M., Pendziwiat, M., Muhle, H., Rademacher, A., Van Baalen, A., Von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M.

مصطلحات موضوعية: Common variant risk, Epilepsy, Genetic generalized epilepsy, Genetic, Cohort Studie, Cost of Illne, Databases, Factual, Epilepsies, Partial, Generalized, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31608925; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200026; volume:142; firstpage:3473; lastpage:3481; numberofpages:9; journal:BRAIN; http://hdl.handle.net/11567/1028583; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074309721

الاتاحة: http://hdl.handle.net/11567/1028583
https://doi.org/10.1093/brain/awz292

المؤلفون: Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Mueller-Schlueter, K, Kluger, G, Hausler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggrafe, I, Schankin, CJ, Mayer, T, Korinthenberg, R, Brockmann, K, Dennig, D, Madeleyn, R, Kalviainen, R, Auvinen, P, Saarela, A, Linnankivi, T, Lehesjoki, A-E, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Barisic, N, Delanty, N, Doherty, CP, Shukralla, A, McCormack, M, El-Naggar, H, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Zara, F, Iacomino, M, Madia, F, Vari, MS, Mancardi, MM, Salpietro, V, Bisulli, F, Tinuper, P, Licchetta, L, Pippucci, T, Stipa, C, Minardi, R, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Marini, C, Suzuki, T, Inoue, Y, Yamakawa, K, Tumiene, B, Sadleir, LG, King, C, Mountier, E, Caglayan, SH, Arslan, M, Yapici, Z, Yis, U, Topaloglu, P, Kara, B, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Ugur-Iseri, S, Baykan, B, Salman, B, Haryanyan, G, Yucesan, E, Kesim, Y, Ozkara, C, Poduri, A, Shiedley, BR, Shain, C, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Khankhanian, P, Helbig, KL, Ellis, CA, Spalletta, G, Piras, F, Gili, T, Ciullo, V, Reif, A, McQuillin, A, Bass, N, McIntosh, A, Blackwood, D, Johnstone, M, Palotie, A, Pato, MT, Pato, CN, Bromet, EJ, Carvalho, CB, Achtyes, ED, Azevedo, MH, Kotov, R, Lehrer, DS, Malaspina, D, Marder, SR, Medeiros, H, Morley, CP, Perkins, DO, Sobell, JL, Buckley, PF, Macciardi, F, Rapaport, MH, Knowles, JA, Fanous, AH, McCarroll, SA, Gupta, N, Gabriel, SB, Daly, MJ, Lander, ES, Lowenstein, DH, Goldstein, DB, Lerche, H, Berkovic, SF, Neale, BM

المصدر: American Journal of Human Genetics , 105 (2) pp. 267-282. (2019)

مصطلحات موضوعية: epilepsy, seizures, epileptic encephalopathy, exome, sequencing, burden analysis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10081126/1/Sisodiya_AAM_FINAL_PROOF_EPI25_WES_ms_text.pdf; https://discovery.ucl.ac.uk/id/eprint/10081126/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10081126/1/Sisodiya_AAM_FINAL_PROOF_EPI25_WES_ms_text.pdf
https://discovery.ucl.ac.uk/id/eprint/10081126/

المؤلفون: Johannesen, KM, Gardella, E, Encinas, AC, Lehesjoki, A-E, Linnankivi, T, Petersen, MB, Lund, ICB, Blichfeldt, S, Miranda, MJ, Pal, DK, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, CD, Sisodiya, SM, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, SE, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, MF, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G, Møller, RS

المصدر: Epilepsia , 60 (5) pp. 830-844. (2019)

مصطلحات موضوعية: SCN8A, epilepsy, epilepsy genetics, intellectual disability, voltage-gated sodium channels

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10076744/3/Sisodiya%20SCN8A%20Intermediate%20final%20revision2_clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10076744/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10076744/3/Sisodiya%20SCN8A%20Intermediate%20final%20revision2_clean.pdf
https://discovery.ucl.ac.uk/id/eprint/10076744/

المؤلفون: Lyu H, Bosselmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Nunez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schols L, Lerche H, Moller RS, Liu Y

المصدر: eBioMedicine, December 2023

Relation: https://eprints.ncl.ac.uk/294584

الاتاحة: https://eprints.ncl.ac.uk/294584

المؤلفون: Stevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O. M., Afawi Z., Amadori E., Anderson A., Anderson J., Andrade D. M., Annesi G., Auce P., Avbersek A., Bahlo M., Baker M. D., Balagura G., Balestrini S., Barba C., Barboza K., Bartolomei F., Bast T., Baum L., Baumgartner T., Baykan B., Bebek N., Becker A. J., Becker F., Bennett C. A., Berghuis B., Berkovic S. F., Beydoun A., Bianchini C., Bisulli F., Blatt I., Bobbili D. R., Borggraefe I., Bosselmann C., Braatz V., Bradfield J. P., Brockmann K., Brody L. C., Buono R. J., Busch R. M., Caglayan H., Campbell E., Canafoglia L., Canavati C., Cascino G. D., Castellotti B., Catarino C. B., Cavalleri G. L., Cerrato F., Chassoux F., Cherny S. S., Cheung C. -L., Chinthapalli K., Chou I. -J., Chung S. -K., Churchhouse C., Clark P. O., Cole A. J., Compston A., Coppola A., Cosico M., Cossette P., Craig J. J., Cusick C., Daly M. J., Davis L. K., de Haan G. -J., Delanty N., Depondt C., Derambure P., Devinsky O., Di Vito L., Dlugos D. J., Doccini V., Doherty C. P., El-Naggar H., Elger C. E., Ellis C. A., Eriksson J. G., Faucon A., Feng Y. -C. A., Ferguson L., Ferraro T. N., Ferri L., Feucht M., Fitzgerald M., Fonferko-Shadrach B., Fortunato F., Franceschetti S., Franke A., French J. A., Freri E., Gagliardi M., Gambardella A., Geller E. B., Giangregorio T., Gjerstad L., Glauser T., Goldberg E., Goldman A., Granata T., Greenberg D. A., Guerrini R., Gupta N., Haas K. F., Hakonarson H., Hallmann K., Hassanin E., Hegde M., Heinzen E. L., Helbig I., Hengsbach C., Heyne H. O., Hirose S., Hirsch E., Hjalgrim H., Howrigan D. P., Hucks D., Hung P. -C., Iacomino M., Imbach L. L., Inoue Y., Ishii A., Jamnadas-Khoda J., Jehi L., Johnson M. R., Kalviainen R., Kamatani Y., Kanaan M., Kanai M., Kantanen A. -M., Kara B., Kariuki S. M., Kasperaviciute D., Kasteleijn-Nolst Trenite D., Kato M., Kegele J., Kesim Y., Khoueiry-Zgheib N., King C., Kirsch H. E., Klein K. M., Kluger G., Knake S., Knowlton R. C., Koeleman B. P. C., Korczyn A. D., Koupparis A., Kousiappa I., Krause R., Krenn M., Krestel H., Krey I., Kunz W. S., Kurki M. I., Kurlemann G., Kuzniecky R., Kwan P., Labate A., Lacey A., Lal D., Landoulsi Z., Lau Y. -L., Lauxmann S., Leech S. L., Lehesjoki A. -E., Lemke J. R., Lerche H., Lesca G., Leu C., Lewin N., Lewis-Smith D., Li G. H. -Y., Li Q. S., Licchetta L., Lin K. -L., Lindhout D., Linnankivi T., Lopes-Cendes I., Lowenstein D. H., Lui C. H. T., Madia F., Magnusson S., Marson A. G., May P., McGraw C. M., Mei D., Mills J. L., Minardi R., Mirza N., Moller R. S., Molloy A. M., Montomoli M., Mostacci B., Muccioli L., Muhle H., Muller-Schluter K., Najm I. M., Nasreddine W., Neale B. M., Neubauer B., Newton C. R. J. C., Nothen M. M., Nothnagel M., Nurnberg P., O'Brien T. J., Okada Y., Olafsson E., Oliver K. L., Ozkara C., Palotie A., Pangilinan F., Papacostas S. S., Parrini E., Pato C. N., Pato M. T., Pendziwiat M., Petrovski S., Pickrell W. O., Pinsky R., Pippucci T., Poduri A., Pondrelli F., Powell R. H. W., Privitera M., Rademacher A., Radtke R., Ragona F., Rau S., Rees M. I., Regan B. M., Reif P. S., Rhelms S., Riva A., Rosenow F., Ryvlin P., Saarela A., Sadleir L. G., Sander J. W., Sander T., Scala M., Scattergood T., Schachter S. C., Schankin C. J., Scheffer I. E., Schmitz B., Schoch S., Schubert-Bast S., Schulze-Bonhage A., Scudieri P., Sham P., Sheidley B. R., Shih J. J., Sills G. J., Sisodiya S. M., Smith M. C., Smith P. E., Sonsma A. C. M., Speed D., Sperling M. R., Stefansson H., Stefansson K., Steinhoff B. J., Stephani U., Stewart W. C., Stipa C., Striano P., Stroink H., Strzelczyk A., Surges R., Suzuki T., Tan K. M., Taneja R. S., Tanteles G. A., Tauboll E., Thio L. L., Thomas G. N., Thomas R. H., Timonen O., Tinuper P., Todaro M., Topaloglu P., Tozzi R., Tsai M. -H., Tumiene B., Turkdogan D., Unnsteinsdottir U., Utkus A., Vaidiswaran P., Valton L., van Baalen A., Vetro A., Vining E. P. G., Visscher F., von Brauchitsch S., von Wrede R., Wagner R. G., Weber Y. G., Weckhuysen S., Weisenberg J., Weller M., Widdess-Walsh P., Wolff M., Wolking S., Wu D., Yamakawa K., Yang W., Yapici Z., Yucesan E., Zagaglia S., Zahnert F., Zara F., Zhou W., Zimprich F., Zsurka G., Zulfiqar Ali Q.

المساهمون: Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O. M., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D. M., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M. D., Balagura, G., Balestrini, S., Barba, C., Barboza, K., Bartolomei, F., Bast, T., Baum, L., Baumgartner, T., Baykan, B., Bebek, N., Becker, A. J., Becker, F., Bennett, C. A., Berghuis, B., Berkovic, S. F., Beydoun, A., Bianchini, C., Bisulli, F., Blatt, I., Bobbili, D. R., Borggraefe, I., Bosselmann, C., Braatz, V., Bradfield, J. P., Brockmann, K., Brody, L. C., Buono, R. J., Busch, R. M., Caglayan, H., Campbell, E., Canafoglia, L., Canavati, C., Cascino, G. D., Castellotti, B., Catarino, C. B., Cavalleri, G. L., Cerrato, F., Chassoux, F., Cherny, S. S., Cheung, C. -L., Chinthapalli, K., Chou, I. -J., Chung, S. -K., Churchhouse, C., Clark, P. O., Cole, A. J., Compston, A., Coppola, A., Cosico, M., Cossette, P., Craig, J. J., Cusick, C., Daly, M. J., Davis, L. K., de Haan, G. -J., Delanty, N., Depondt, C., Derambure, P., Devinsky, O., Di Vito, L., Dlugos, D. J., Doccini, V., Doherty, C. P., El-Naggar, H., Elger, C. E., Ellis, C. A., Eriksson, J. G., Faucon, A., Feng, Y. -C. A., Ferguson, L., Ferraro, T. N., Ferri, L., Feucht, M., Fitzgerald, M., Fonferko-Shadrach, B., Fortunato, F., Franceschetti, S., Franke, A., French, J. A., Freri, E., Gagliardi, M., Gambardella, A., Geller, E. B., Giangregorio, T., Gjerstad, L.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37653029; info:eu-repo/semantics/altIdentifier/wos/WOS:001169861400003; volume:55; firstpage:1471; lastpage:1482; numberofpages:12; journal:NATURE GENETICS; https://hdl.handle.net/11567/1142155; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169457451

الاتاحة: https://hdl.handle.net/11567/1142155
https://doi.org/10.1038/s41588-023-01485-w

المؤلفون: Heyne, HO, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, KL, Koeleman, BPC, Kosmicki, JA, Linnankivi, T, May, P, Muhle, H, Moller, RS, Neubauer, BA, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Poduri, A, Weber, YG, Weckhuysen, S, Sisodiya, SM, Daly, MJ, Helbig, I, Lal, D, Lemke, JR

المصدر: Nature Genetics , 50 (7) pp. 1048-1053. (2018)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, AUTISM SPECTRUM DISORDER, INTELLECTUAL DISABILITY, KCNQ2 ENCEPHALOPATHY, SEQUENCE VARIANTS, ILAE COMMISSION, HUMAN-DISEASE, MUTATIONS, CLASSIFICATION, TERMINOLOGY, PREVALENCE

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10056021/1/48068_4_merged_1519372761.pdf; https://discovery.ucl.ac.uk/id/eprint/10056021/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10056021/1/48068_4_merged_1519372761.pdf
https://discovery.ucl.ac.uk/id/eprint/10056021/

المؤلفون: Linnankivi, T, Makitie, O, Valanne, L, Toiviainen-Salo, S

المصدر: American journal of medical genetics. Part A. 158A(12):3119-3125

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125625524

المؤلفون: Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, HO, Helbig, KL, Tang, S, Willing, MC, Tinkle, BT, Adams, DJ, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, TM, Mefford, HC, Myers, CT, Muir, AM, LaCroix, A, Sadleir, L, Scheffer, IE, Brilstra, E, van Haelst, MM, van der Smagt, JJ, Bok, LA, Møller, RS, Jensen, UB, Millichap, JJ, Berg, AT, Goldberg, EM, De Bie, I, Fox, S, Major, P, Jones, JR, Zackai, EH, Abou Jamra, R, Rolfs, A, Leventer, RJ, Lawson, JA, Roscioli, T, Jansen, FE, Ranza, E, Korff, CM, Lehesjoki, AE, Courage, C, Linnankivi, T, Smith, DR, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, WH, Tarnopolsky, MA, Brady, LI, Wolff, M, Dondit, L, Pedro, HF, Parisotto, SE, Jones, KL, Patel, AD, Franz, DN, Vanzo, R, Marco, E, Ranells, JD, Di Donato, N, Dobyns, WB, Laube, B, Traynelis, SF, Lemke, JR

المصدر: urn:ISSN:0022-2593 ; urn:ISSN:1468-6244 ; Journal of Medical Genetics, 54, 7, 460-470

مصطلحات موضوعية: 31 Biological Sciences, 32 Biomedical and Clinical Sciences, 3105 Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Neurodegenerative, Epilepsy, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Neurological, Brain Diseases, Heterozygote, Humans, Magnetic Resonance Imaging, Memantine, Molecular Targeted Therapy, Mutation, Neuroimaging, Phenotype, Receptors, N-Methyl-D-Aspartate, channelopathy, clustering of missense variants, epileptic encephalopathy, pathogenic GRIN2B mutations, precision medicine, anzsrc-for: 31 Biological Sciences

Relation: http://purl.org/au-research/grants/nhmrc/APP1113895; http://purl.org/au-research/grants/nhmrc/APP1117394; http://purl.org/au-research/grants/nhmrc/APP1113531; http://hdl.handle.net/1959.4/unsworks_44264

الاتاحة: http://hdl.handle.net/1959.4/unsworks_44264
https://doi.org/10.1136/jmedgenet-2016-104509

المؤلفون: Allen, AS, Berkovic, SF, Bridgers, J, Cossette, P, Dlugos, D, Epstein, MP, Glauser, T, Goldstein, DB, Heinzen, EL, Jiang, Y, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Petrou, S, Petrovski, S, Poduri, A, Ren, Z, Scheffer, IE, Sherr, E, Wang, Q, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Helbig, I, Hjalgrim, H, Hoffman-Zacharska, D, Jaehn, J, Klein, KM, Koeleman, B, Komarek, V, Krause, R, Leguern, E, Lehesjoki, A-E, Lemke, JR, Lerche, H, Linnankivi, T, Marini, C, May, P, Moller, RS, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, S, Stephani, U, Sterbova, K, Striano, P, Suls, A, Talvik, T, von Spiczak, S, Weber, Y, Weckhuysen, S, Zara, F, Abou-Khalil, B, Alldredge, BK, Amrom, D, Andermann, E, Andermann, F, Bautista, JF, Bluvstein, J, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, ME, Fountain, NB, French, J, Friedman, D, Haas, K, Haut, SR, Hayward, J, Joshi, S, Kanner, A, Kirsch, HE, Kossoff, EH, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, J, Park, K, Shellhaas, RA, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

المصدر: European Journal of Human Genetics , 25 (7) pp. 894-899. (2017)

مصطلحات موضوعية: Epilepsy, Risk factors

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10082842/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10082842/

المؤلفون: Grapp, Marcel, Just, I. A., Linnankivi, T., Wolf, P., Luecke, T., Haeusler, M., Gärtner, Jutta, Steinfeld, Robert

المساهمون: Grapp, Marcel, Just, I. A., Linnankivi, T., Wolf, P., Luecke, T., Haeusler, M., Gärtner, Jutta, Steinfeld, Robert

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/8858; 000305826300005; 3142500

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/8858
https://doi.org/10.1093/brain/aws122

المؤلفون: Lal D., May P., Perez-Palma E., Samocha K. E., Kosmicki J. A., Robinson E. B., Moller R. S., Krause R., Nurnberg P., Weckhuysen S., De Jonghe P., Guerrini R., Niestroj L. M., Du J., Marini C., Balling R., Barisic N., Baulac S., Caglayan H., Craiu D. C., Depienne C., Helbig I., Hjalgrim H., Hoffman-Zacharska D., Jahn J., Klein K. M., Koeleman B. P. C., Komarek V., Leguern E., Lehesjoki A. -E., Lemke J. R., Lerche H., Linnankivi T., Muhle H., Pal D. K., Palotie A., Rosenow F., Schubert-Bast S., Selmer K., Serratosa J. M., Stephani U., Sterbova K., Striano P., Suls A., Talvik T., Von Spiczak S., Weber Y. G., Zara F., Ware J. S., Kurki M., Gormley P., Tang S., Wu S., Biskup S., Poduri A., Neubauer B. A., Helbig K. L., Majithia A. R., Daly M. J.

المساهمون: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

مصطلحات موضوعية: Conservation, Gene family, Missense variant, Neurodevelopmental disorder, Paralogs

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000521208500001; volume:12; firstpage:28; lastpage:28; numberofpages:1; journal:GENOME MEDICINE; http://hdl.handle.net/11567/1021987; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082059954

الاتاحة: http://hdl.handle.net/11567/1021987
https://doi.org/10.1186/s13073-020-00725-6

المؤلفون: Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leu C., Leech S. L., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E. M., Kunz W. S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S. F., Lerche H., Lowenstein D. H., Goldstein D. B.

المساهمون: Motelow, J. E., Povysil, G., Dhindsa, R. S., Stanley, K. E., Allen, A. S., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Cusick, C., Singh, T., Heyne, H., Byrnes, A. E., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Gupta, N., Neale, B. M., Cavalleri, G. L., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Sisodiya, S. M., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bennett, C. A., Leu, C., Leech, S. L., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Ali, Q. Z., Sadoway, T. R., Krestel, H., Schaller, A., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Christou, Y., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Neubauer, B. A., Zimprich, F., Feucht, M., Reinthaler, E. M., Kunz, W. S., Zsurka, G., Surges, R., Baumgartner, T., von Wrede, R., Pendziwiat, M., Muhle, H., Rademacher, A., van Baalen, A., von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M., Blatt, I., Lemke, J. R., Krey, I., Weber, Y. G., Wolking, S., Becker, F., Lauxmann, S., Bosselmann, C., Kegele, J.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300016; volume:108; issue:10; firstpage:2024; lastpage:2024; numberofpages:1; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3231520; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116916069

الاتاحة: http://hdl.handle.net/11570/3231520
https://doi.org/10.1016/j.ajhg.2021.08.008

المؤلفون: Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leu C., Leech S. L., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E. M., Kunz W. S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S. F., Lerche H., Lowenstein D. H., Goldstein D. B.

المساهمون: Motelow, J. E., Povysil, G., Dhindsa, R. S., Stanley, K. E., Allen, A. S., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Cusick, C., Singh, T., Heyne, H., Byrnes, A. E., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Gupta, N., Neale, B. M., Cavalleri, G. L., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Sisodiya, S. M., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bennett, C. A., Leu, C., Leech, S. L., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Ali, Q. Z., Sadoway, T. R., Krestel, H., Schaller, A., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Christou, Y., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Neubauer, B. A., Zimprich, F., Feucht, M., Reinthaler, E. M., Kunz, W. S., Zsurka, G., Surges, R., Baumgartner, T., von Wrede, R., Pendziwiat, M., Muhle, H., Rademacher, A., van Baalen, A., von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M., Blatt, I., Lemke, J. R., Krey, I., Weber, Y. G., Wolking, S., Becker, F., Lauxmann, S., Bosselmann, C., Kegele, J.

مصطلحات موضوعية: ClinVar, Epi25, epilepsy, epileptic encephalopathy, focal epilepsy, generalized epilepsy, intolerance, Louvain, seizure, whole-exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000658897400016; volume:108; issue:6; firstpage:965; lastpage:982; numberofpages:18; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3231604; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107902640

الاتاحة: http://hdl.handle.net/11570/3231604
https://doi.org/10.1016/j.ajhg.2021.04.009

المؤلفون: Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémie, T., Afrikanova, T., Gormley, P., Von Spiczak, S., Kluger, G., Iliescu, C. M., Talvik, T., Talvik, I., Meral, C., Caglayan, H. S., Giraldez, B. G., Serratosa, J., Lemke, J. R., Hoffman-Zacharska, D., Szczepanik, E., Barisic, N., Komarek, V., Hjalgrim, H., Møller, R. S., Linnankivi, T., Dimova, P., Striano, P., Zara, F., Marini, C., Guerrini, R., Depienne, C., Baulac, S., Kuhlenbäumer, G., Crawford, Alexander Dettmar, Lehesjoki, A.-E., De Witte, P. A. M., Palotie, A., Lerche, H., Esguerra, C. V., De Jonghe, P., Helbig, I.

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group)

المصدر: American Journal of Human Genetics, 93 (5), 967-975 (2013)

مصطلحات موضوعية: DNA binding protein, DNA fragment, Animals, Child, Cognition Disorders, Cohort Studies, DNA-Binding Proteins, Epilepsies, Myoclonic, Exome, Female, Gene Knockdown Techniques, Haploinsufficiency, Humans, Intellectual Disability, Larva, Male, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Febrile, Young Adult, Zebrafish, Danio rerio, Human health sciences, Sciences de la santé humaine

Relation: urn:issn:0002-9297; https://orbilu.uni.lu/handle/10993/27271; info:hdl:10993/27271; https://orbilu.uni.lu/bitstream/10993/27271/1/Suls%2c%20Jaehn%2c%20Crawford%202013%20copy.pdf; info:pmid: PMID: PMID: 24207121; wos:000326996600017

الاتاحة: https://orbilu.uni.lu/handle/10993/27271
https://orbilu.uni.lu/bitstream/10993/27271/1/Suls%2c%20Jaehn%2c%20Crawford%202013%20copy.pdf
https://doi.org/10.1016/j.ajhg.2013.09.017