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

العلاقة: 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/11585/957673Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6Test

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

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

العلاقة: 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-wTest.; http://hdl.handle.net/11343/337633Test

الإتاحة: https://doi.org/10.1038/s41588-023-01485-wTest
http://hdl.handle.net/11343/337633Test

المؤلفون: Hedrich, UBS, Lauxmann, S, Wolff, M, Synofzik, M, Bast, T, Binelli, A, Serratosa, JM, Martinez-Ulloa, P, Allen, NM, King, MD, Gorman, KM, Ben Zeev, B, Tzadok, M, Wong-Kisiel, L, Marjanovic, D, Rubboli, G, Sisodiya, SM, Lutz, F, Ashraf, HP, Torge, K, Yan, P, Bosselmann, C, Schwarz, N, Fudali, M, Lerche, H

المصدر: Science Translational Medicine , 13 (609) , Article eaaz4957. (2021)

وصف الملف: text; image

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137729/19/Sisodiya_aaz4957_ArticleContent_MM-HL-UH-SL-Final.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137729/4/Fig_1.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/9/Fig_2.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/14/Fig_3.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/24/Sisodiya_aaz4957_SupplementalMaterial_MM_UH-HL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137729Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10137729/19/Sisodiya_aaz4957_ArticleContent_MM-HL-UH-SL-Final.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137729/4/Fig_1.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/9/Fig_2.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/14/Fig_3.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/24/Sisodiya_aaz4957_SupplementalMaterial_MM_UH-HL.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137729Test/

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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10131811Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10131811Test/

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

العلاقة: 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/11567/1142155Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169457451

الإتاحة: https://doi.org/10.1038/s41588-023-01485-wTest
https://hdl.handle.net/11567/1142155Test

المؤلفون: Johannesen, K.M., Liu, Y., Koko, M., Gjerulfsen, C.E., Sonnenberg, L., Schubert, J., Fenger, C.D., Eltokhi, A., Rannap, M., Koch, N.A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., Sterbova, K., Lassuthová, P., Vlckova, M., Lemke, J.R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K.M., Au, PYB, Rho, J.M., Ho, A.W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C.E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J.S., Braakman, HMH, van der Zwaag, B., Harder, AVE, Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Le, N.M., Christensen, J., Grønborg, S., Scherer, S.W., Howe, J., Fazeli, W., Howell, K.B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C.M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M.M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M.S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K.E., Eisenhauer, N., Wagner, M., Savatt, J.M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M.C., Destrée, A., Schoonjans, A.S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W.H., Olson, H.E., Loddenkemper, T., Poduri, A., Helbig, K.L., Helbig, I., Fitzgerald, M.P., Goldberg, E.M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H.O., Lesca, G., Hedrich, UBS, Benda, J., Gardella, E., Lerche, H., Møller, R.S.

المصدر: Brain, vol. 145, no. 9, pp. 2991-3009

مصطلحات موضوعية: Epilepsy, Generalized/drug therapy, Generalized/genetics, Epileptic Syndromes/drug therapy, Epileptic Syndromes/genetics, Genetic Association Studies, Humans, Infant, Intellectual Disability/genetics, Mutation, NAV1.6 Voltage-Gated Sodium Channel/genetics, Prognosis, Seizures/drug therapy, Seizures/genetics, Sodium Channel Blockers/therapeutic use, SCN8A, genetics, personalized medicine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34431999; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; https://serval.unil.ch/notice/serval:BIB_08E33EDD42EETest; urn:issn:0006-8950

الإتاحة: https://doi.org/10.1093/brain/awab321Test
https://serval.unil.ch/notice/serval:BIB_08E33EDD42EETest

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.

العلاقة: 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/11570/3231520Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116916069

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

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

العلاقة: 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/11570/3231604Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107902640

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

المؤلفون: Kegele J, Krüger J, Koko M, Lange L, Hernandez, AVM, Martinez F, Münchau A, Lerche H, Lauxmann S

المصدر: Frontiers in neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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مصطلحات موضوعية: paroxysmal dyskinesia, KCNA1, paroxysmal exercise induced dyskinesia, paroxysmal kinesiogenic dyskinesia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f352688c737f3bd645a7b4e1a52342c6Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14490Test

المؤلفون: Lauxmann, S., Weber, Y., Lerche, H., Koch, H.

المصدر: Clinical Neurophysiology ; volume 126, issue 8, page e150 ; ISSN 1388-2457

مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, Sensory Systems

الإتاحة: https://doi.org/10.1016/j.clinph.2015.04.247Test
https://api.elsevier.com/content/article/PII:S1388245715004940?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1388245715004940?httpAccept=text/plainTest