Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Autor: Lal, D., Reinthaler, E. M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A. . E., Schwarz, G., Riesch, E., Ikram, M. A., Van Duijn, C. M., Uitterlinden, A. G., Hofman, A., Steinböck, H., Gruber sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y. G., Cilio, M. R., Kunz, W. S., Krause, R., Zimprich, F., Lemke, J. R., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B. A., Palotie, A., Ruppert, A. K., Suls, A., Siren, A., Koeleman, B., Haberlandt, E., Ronen, G. M., Caglayan, H., Hjalgrim, H., Muhle, H., Schulz, H., Helbig, I., Altmüller, J., Geldner, J., Schubert, J., Jabbari, K., Everett, K., Feucht, M., Balestri, M., Nothnagel, M., Striano, Pasquale, Møller, R. S., Nabbout, R., Balling, R., Baulac, S., Bianchi, A., La Neve, A., Minetti, Carlo, Giuseppe, C.

Publikováno v: PLoS One (print), 11(3). Public Library of Science
PLoS ONE
PLoS ONE. San Franscisco, CA: Public Library of Science (2016).
Lal, D, Reinthaler, E M, Dejanovic, B, May, P, Thiele, H, Lehesjoki, A-E, Schwarz, G, Riesch, E, Ikram, M A, van Duijn, C M, Uitterlinden, A G, Hofman, A, Steinböck, H, Gruber-Sedlmayr, U, Neophytou, B, Zara, F, Hahn, A, Gormley, P, Becker, F, Weber, Y G, Cilio, M R, Kunz, W S, Krause, R, Zimprich, F, Lemke, J R, Nürnberg, P, Sander, T, Lerche, H, Neubauer, B A, Genetic Commission of the Italian League against Epilepsy, Hjalgrim, H & Møller, R S 2016, ' Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes ', P L o S One, vol. 11, no. 3, e0150426 . https://doi.org/10.1371/journal.pone.0150426
PLoS ONE, Vol 11, Iss 3, p e0150426 (2016)

A. Palotie on työryhmän jäsen. Objective The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laborato

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe84aefa145b24319f7a4d235e944dd
http://hdl.handle.net/10138/161347

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Can sodium valproate improve learning in children with epileptiform bursts but without clinical seizures?

Autor: Ronen, Gabriel M, Richards, Joanne E, Cunningham, Charles, Secord, Margaret, Rosenbloom, David, Ronen, G M, Richards, J E, Cunningham, C, Secord, M, Rosenbloom, D

Publikováno v: Developmental Medicine & Child Neurology; Nov2000, Vol. 42 Issue 11, p751-755, 5p

Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

Autor: Ronen, G. M., Rosales, T. O., Connolly, M., Anderson, V. E., Leppert, M.

Publikováno v: Neurology; Jul1993, Vol. 43 Issue 7, p1355-1360, 6p

Abstracts of scientific papers second international symposium on central nervous system monitoring

Autor: Gaab, M. R., Trost, H. A., Lorenz, M., Seegers, K., Heuser, D., Fitch, W., Baethmann, A., Speckmann, E. -J., Lehmenkühler, A., Pöppelmann, Th., Bingmann, D., Rabow, L., Bergenheim, T., Bålfors, Eva, Urban, G., Keplinger, F., Kohl, F., Kuttner, H., Jobst, G., Pittner, F., Schalkhammer, T., Mann-Buxbaum, E., Litscher, G., Steiler, E., Pfurtschcller, G., Schwarz, G., Hinrichs, H., Feistner, H., Künkel, H., Wieser, H. G., Isler, P., Witztum, A., Siegel, A., Merles, N., Möllmann, M., Penner, M., Schoeppner, H., Hohenberger, K., Daub, D., Freye, E., Grabitz, K., Sandmann, W., Haass, A., Ladurner, G., Teasdale, G., Weis, M., Hilz, M. J., Claus, D., Neundörfer, B., Druschky, K. F., Litscher, G., Pfurtscheller, G., Heinze, H.-J, Künkcl, H., Symon, L., Cooper, Gough, Rampil, I. J., Bosco, M., Adducci, E., Gualtieri, E., Amato, A., Lacava, E., Mascia, A., Bonomo, V., Dinkel, M., Kamp, H.-D, Schweiger, H., Jaksche, H., Schwerdtfeger, K., Loew, F., Rath, S. A., Klein, H. J., Kühn, J., Fritz, W., Thiel, A., Russ, W., Hcmpelmann, G., Morawetz, R. F., Schlager, A., Lugcr, Th. J., Vajsar, J., Hopkins, Anne J., Ronen, G. M., Kuppe, H., Porte, T., Dannenberger, R., Götz, C., Adt, M., Schmucker, P., Landi, A., Colombo, F., De Luca, G. P., Fornezza, U., Benedctti, A., Bruno, R., Zamparctti, N., Engelhardt, W., Drösler, S., Dierks, T., Maurer, K., Hecht, U., Lehmkuhl, P., Pichlmayr, I., Cheng-hui, Li, Shi-ao, Jin, Cheng-hui, Li, Shi-ao, Jin, Theissen, J., Zander, J., Moberg, D., Bell, R., Miller, S. B., Pohl, S., Hühnefeld, D., Henries, H.-J, Jantzen, J.-P, Eberle, B., Dick, W., Wallenfang, T., Fuzes, I., Geissler, C., Schregel, W., Cunitz, G., Fomezza, U., Volpin, L., Zamperetti, N., Demo, P., Digito, A., Barbacini, S., Zamperetti, N., Lacquaniti, L.

Publikováno v: Journal of Clinical Monitoring and Computing; April 1990, Vol. 6 Issue: 2 p161-182, 22p